Choquet, Hélène
Research interests include human genetics, with a focus on identifying genetic factors which influence complex diseases and their treatments.
Schaefer, Catherine
Research interests include the epidemiology of psychiatric and neurologic disorders.
Iribarren, Carlos
Research interests include the genetic determinants of coronary disease.
Croen, Lisa A.
Research interests include the epidemiology of autism and other neurodevelopmental disorders.
Precision Prostate Cancer Screening with Genetically Adjusted Prostate-Specific Antigen Levels
This is a project more comprehensively determine the genetic factors associated with PSA levels, and to develop and apply prediction…
Polygenic Risk Scores for Advancing CVD Risk Stratification among Asymptomatic Adults
Leveraging the GERA Cohort to evaluate the performance of a 12-SNP PRS for CVD against the Pool Cohorts Equation across…
Maternal blood metal concentrations and whole blood DNA methylation during pregnancy in the Early Autism Risk Longitudinal Investigation (EARLI)
The maternal epigenome may be responsive to prenatal metals exposures. We tested whether metals are associated with concurrent differential maternal…
Lifecourse health, cerebral pathology and ethnic disparities in dementia (KHANDLE Study)
The Kaiser Healthy Aging and Diverse Life Experiences (KHANDLE) Study, a collaborative study between DOR and UC Davis, follows a…
Genomic and Transcriptomic Analysis of Mammographic Density
This study will combine functional data from gene expression and co-expression networks with GWAS data to elucidate the genetic determinants…
Pharmacogenetics of inhaled corticosteroids and exacerbation risk in adults with asthma
Inhaled corticosteroids (ICS) are a cornerstone of asthma treatment. However, their efficacy is characterized by wide variability in individual responses.…
Leveraging Diversity in Cancer Epidemiology Cohorts and Novel Methods to Improve Polygenic Risk Scores
Inadequate representation of diverse racial/ethnic populations in genetic studies is hindering the translational potential of polygenic risk scores (PRS) in…
Comparing the frequency of SARS-CoV-2 variants of concern among vaccinated and unvaccinated COVID-19 cases
In partnership with the California Emerging Infection Program and the California Department of Public Health, Kaiser Permanente Northern California will…
Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure
Long and short sleep duration are associated with elevated blood pressure (BP), possibly through effects on molecular pathways that influence…
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder
Bipolar disorder (BD) is a serious mental illness with substantial common variant heritability. However, the role of rare coding variation…
Leukemia Risk in a Cohort of 3.9 Million Children With and Without Down Syndrome
To assess leukemia risks among children with Down syndrome in a large, contemporary cohort. Retrospective cohort study including 3 905…
Genetic architectures of proximal and distal colorectal cancer are partly distinct
An understanding of the etiologic heterogeneity of colorectal cancer (CRC) is critical for improving precision prevention, including individualized screening recommendations…
A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects
Cataract is the leading cause of blindness among the elderly worldwide and cataract surgery is one of the most common…
DNA methylation GrimAge and Incident Diabetes: The Coronary Artery Risk Development in Young Adults (CARDIA) Study
DNA methylation (DNAm)-based biological age (epigenetic age) has been suggested as a useful biomarker of age-related conditions including type 2…
Genetically predicted circulating concentrations of micronutrients and risk of colorectal cancer among individuals of European descent: a Mendelian randomization study
The literature on associations of circulating concentrations of minerals and vitamins with risk of colorectal cancer is limited and inconsistent.…
Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program
Whole-genome sequencing (WGS), a powerful tool for detecting novel coding and non-coding disease-causing variants, has largely been applied to clinical…
Identification of genetic loci and pathways underlying hidradenitis suppurativa risk
Hidradenitis suppurativa (also named: acne inversa) is a chronic inflammatory skin condition that causes painful lumps to form under the…
Precision Prostate Cancer Screening with Genetically Adjusted Prostate-Specific Antigen Levels – DUPLICATED DO NOT ACTIVATE
An effort to more comprehensively determine the genetic factors associated with prostate-specific antigen (PSA) levels, and to develop and apply…
Maternal Health in Pregnancy and Autism Risk – Genetic and Non-genetic Mechanisms
This study will systematically identify maternal diagnoses in pregnancy associated with autism spectrum disorder (ASD) in offspring; test if the…
Autism Specific Patterns of DNA Methylation from Birth to Age 5
This study will examine potential differences in DNA methylation (DNAm) in early life, from birth through age 5, between children…
Interactions of Environmental Chemical Mixtures, Genetics, and Immune Pathways in Autism Spectrum Disorder
The goal of this K99/R00 Pathway to Independence Award is to receive mentored training in polygenic GWAS tools and complex…
Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images
Optical Coherence Tomography (OCT) enables non-invasive imaging of the retina and is used to diagnose and manage ophthalmic diseases including…
A Genome-wide Association Study for Concussion Risk
This study aimed to screen the entire genome for genetic markers associated with risk for concussion. A genome-wide association analyses…
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus
Keratoconus is characterised by reduced rigidity of the cornea with distortion and focal thinning that causes blurred vision, however, the…
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide. To identify risk loci, we conduct a large…
Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts
Even distinct cancer types share biological hallmarks. Here, we investigate polygenic risk score (PRS)-specific pleiotropy across 16 cancers in European…
Cigarette smoking behaviors and the importance of ethnicity and genetic ancestry
Cigarette smoking contributes to numerous diseases and is one of the leading causes of death in the United States. Smoking…
The impact of adjusting for baseline in pharmacogenomic genome-wide association studies of quantitative change
In pharmacogenomic studies of quantitative change, any association between genetic variants and the pretreatment (baseline) measurement can bias the estimate…
Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction
Prostate cancer is a highly heritable disease with large disparities in incidence rates across ancestry populations. We conducted a multiancestry…
Sex-Specific Genetic Associations for Barrett’s Esophagus and Esophageal Adenocarcinoma
Esophageal adenocarcinoma (EA) and its premalignant lesion, Barrett's esophagus (BE), are characterized by a strong and yet unexplained male predominance…
Natural history of achondroplasia: A retrospective review of longitudinal clinical data
There are limited data on the longitudinal frequency and severity of the symptoms and complications of achondroplasia. We undertook a…
Association Between Levels of Hormones and Risk of Esophageal Adenocarcinoma and Barrett’s Esophagus
Esophageal adenocarcinoma (EAC) occurs most frequently in men. We performed a Mendelian randomization analysis to investigate whether genetic factors that…
Statin Treatment and Incident Alzheimer’s Disease and Related Dementias in a Large, Multi-ethnic Health Plan
The study will assess the effects of statin treatment on risk of Alzheimer's disease and related dementias, controlling for potential…
Cord blood DNA methylome in newborns later diagnosed with autism spectrum disorder reflects early dysregulation of neurodevelopmental and X-linked genes
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with complex heritability and higher prevalence in males. The neonatal epigenome has…
Streamlining genetic testing for women with ovarian cancer in a Northern California health care system
Referral to Genetics for pre-testing counseling may be inefficient for women with ovarian cancer. This study assesses feasibility of gynecologic…
Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts
Deciphering the shared genetic basis of distinct cancers has the potential to elucidate carcinogenic mechanisms and inform broadly applicable risk…
Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations
Most loci identified by GWASs have been found in populations of European ancestry (EUR). In trans-ethnic meta-analyses for 15 hematological…
Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk
Accurate colorectal cancer (CRC) risk prediction models are critical for identifying individuals at low and high risk of developing CRC,…
Association of genetic risk for Alzheimer disease and hearing impairment
To test the hypothesis that incipient AD may adversely affect hearing and that hearing loss may adversely affect cognition we…
Virological Failure and Acquired Genotypic Resistance Associated With Contemporary Antiretroviral Treatment Regimens
There are few descriptions of virologic failure (VF) and acquired drug resistance (HIVDR) in large cohorts initiating contemporary antiretroviral therapy…
Meta-analysis of 26,638 Individuals Identifies Two Genetic Loci Associated with Left Ventricular Ejection Fraction
Left ventricular ejection fraction (EF) is an indicator of cardiac function, usually assessed in individuals with heart failure and other…
Adipokines in early and mid-pregnancy and subsequent risk of gestational diabetes: a longitudinal study in a multiracial cohort
Several adipokines are implicated in the pathophysiology of gestational diabetes mellitus (GDM), however, longitudinal data in early pregnancy on many…
Associations Between Cardiac Biomarkers and Cardiac Structure and Function in CKD
Subclinical changes to cardiac structure and function detected with echocardiography precede the development of clinical heart failure (HF) in persons…
Age-of-onset information helps identify 76 genetic variants associated with allergic disease
Risk factors that contribute to inter-individual differences in the age-of-onset of allergic diseases are poorly understood. The aim of this…
A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness
Central corneal thickness (CCT) is one of the most heritable human traits, with broad-sense heritability estimates ranging between 0.68 to…
Chronic psychosocial and financial burden accelerates 5-year telomere shortening: findings from the Coronary Artery Risk Development in Young Adults Study
Leukocyte telomere length, a marker of immune system function, is sensitive to exposures such as psychosocial stressors and health-maintaining behaviors.…
Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia
Refractive errors, in particular myopia, are a leading cause of morbidity and disability worldwide. Genetic investigation can improve understanding of…
The Role of Genetic Risk Factors in Keratinocyte Carcinoma Susceptibility
The goal of this proposal is to identify genetic loci that affect the risk of keratinocyte carcinoma, examine how environmental…
Sexual function, menopausal symptoms, depression and cancer worry in women with BRCA mutations
Assess sexual function, menopausal symptoms, and depression in women with BRCA mutations associated with oophorectomy and menopause status. Women age…
Genetics at an Extreme: An Efficient Genomic Study of Individuals with Clinically Severe Major Depression Receiving ECT
This study brings together investigators from around the world to carry out a genetics study of severe major depressive disorder…
Longitudinal epigenomic study of gestational diabetes mellitus and cardiac structure and function
The goal of this study is to identify epigenetic changes (evaluation of DNA methylation over time) associated with a previous…
Functional validity, role, and implications of heavy alcohol consumption genetic loci
High alcohol consumption is a risk factor for morbidity and mortality, yet few genetic loci have been robustly associated with…
The impact of adjusting for baseline in pharmacogenomic genome-wide association studies of quantitative change
In pharmacogenomic studies of quantitative change, any association between genetic variants and the pretreatment (baseline) measurement can bias the estimate…
Clinical implications of recent advances in primary open-angle glaucoma genetics
Over the last decade, genetic studies, including genome-wide association studies (GWAS), have accelerated the discovery of genes and genomic regions…
Sex Hormone-binding Globulin, Cardiometabolic Biomarkers, and Gestational Diabetes: A Longitudinal Study and Meta-analysis
This study investigated the prospective associations of circulating levels of sex hormone-binding globulin (SHBG) levels with cardiometabolic biomarkers and risk…
Genetic ancestry does not explain increased atopic dermatitis susceptibility or worse disease control among African American subjects in 2 large US cohorts
Atopic dermatitis (AD) is more common among African American children. Whether there are racial/ethnic difference among adults with AD and…
Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations
Most genome-wide association and fine-mapping studies to date have been conducted in individuals of European descent, and genetic studies of…
Contribution of rare coding mutations in CD36 to type 2 diabetes and cardio-metabolic complications
We sequenced coding regions of the cluster of differentiation 36 (CD36) gene in 184 French individuals of European ancestry presenting…
Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration
Both short and long sleep are associated with an adverse lipid profile, likely through different biological pathways. To elucidate the…
Cannabis Use and Markers of Systemic Inflammation The Coronary Artery Risk Development in Young Adults Study
It is unclear whether cannabis use in humans plays a role in the regulation of inflammatory responses. This study aimed…
Locus of Control and Cognition in Older Adults With Type I Diabetes: Evidence For Sex Differences From the Study of Longevity in Diabetes (SOLID)
Life expectancy for individuals with type 1 diabetes mellitus (T1DM) has increased recently; however, it is unknown how diabetes care…
Assessing the clinical impact of CYP2C9 pharmacogenetic variation on phenytoin prescribing practice and patient response in an integrated health system
To assess the impact of CYP2C9 variation on phenytoin patient response and clinician prescribing practice where genotype was unknown during…
A Cross-Sectional Analysis of Telomere Length and Sleep in the Women’s Health Initiative
Telomere length is a heritable marker of cellular age that is associated with morbidity and mortality. Poor sleep behaviors, which…
An Exploratory Examination of Neonatal Cytokines and Chemokines as Predictors of Autism Risk: The Early Markers for Autism Study
The identification of an early biomarker for autism spectrum disorder (ASD) would improve the determination of risk, leading to earlier…
Telomere length and socioeconomic status at neighborhood and individual levels among 80,000 adults in the Genetic Epidemiology Research on Adult Health and Aging cohort
Telomere length (TL) may serve as a biologic marker of aging. We examined neighborhood and individual-level socioeconomic status (SES) in…
miRNA contributions to pediatric-onset multiple sclerosis inferred from GWAS
Onset of multiple sclerosis (MS) occurs in childhood for approximately 5% of cases (pediatric MS, or ped-MS). Epigenetic influences are…
Multi-Ancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions
A person's lipid profile is influenced by genetic variants and alcohol consumption, but the contribution of interactions between these exposures…
Mendelian randomization analysis of C-reactive protein on colorectal cancer risk
Chronic inflammation is a risk factor for colorectal cancer (CRC). Circulating C-reactive protein (CRP) is also moderately associated with CRC…
Evaluation of commonly used ectoderm markers in iPSC trilineage differentiation
Patient-derived induced pluripotent stem cells (iPSCs) have become a promising resource for exploring genetics of complex diseases, discovering new drugs,…
Epigenetic marks of prenatal air pollution exposure found in multiple tissues relevant for child health
Prenatal air pollution exposure has been linked to many adverse health conditions in the offspring. However, little is known about…
Meta-analysis of epigenome-wide association studies in neonates reveals widespread differential DNA methylation associated with birthweight
Birthweight is associated with health outcomes across the life course, DNA methylation may be an underlying mechanism. In this meta-analysis…
SeqSQC: A Bioconductor Package for Evaluating the Sample Quality of Next-generation Sequencing Data
As next-generation sequencing (NGS) technology has become widely used to identify genetic causal variants for various diseases and traits, a…
Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids
The concentrations of high- and low-density-lipoprotein cholesterol and triglycerides are influenced by smoking, but it is unknown whether genetic associations…
Genome-wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol
Allopurinol, which lowers uric acid (UA) concentration, is increasingly being recognized for its benefits in cardiovascular and renal disease. However,…
Human papillomavirus 16 sub-lineage dispersal and cervical cancer risk worldwide: Whole viral genome sequences from 7116 HPV16-positive women
Human papillomavirus (HPV)16 can be separated into genetic sub-lineages (A1-4, B1-4, C1-4, D1-4) which may have differential cervical cancer risk.…
Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use
Tobacco and alcohol use are leading causes of mortality that influence risk for many complex diseases and disorders1. They are…
ICLIC-MS for Enhancing Outcomes Research and Clinical Care in Multiple Sclerosis
The goal of this project is 1) to collect longitudinal measures of cognitive function, quality of life, and physical disability…
Genome-wide association study of 23,500 individuals identifies 7 loci associated with brain ventricular volume
The volume of the lateral ventricles (LV) increases with age and their abnormal enlargement is a key feature of several…
Novel Common Genetic Susceptibility Loci for Colorectal Cancer
Previous genome-wide association studies (GWAS) have identified 42 loci (P < 5 × 10-8) associated with risk of colorectal cancer (CRC). Expanded…
Investigating the Effects of KIR and HLA Gene Polymorphisms on Psoriasis
The goal of this project is to investigate the effects of genetic polymorphisms in the KIR and HLA genes on…
System-Level Capture of Family History Data to Assess Risk of Cancer and Provide Longitudinal Care Coordination
Genetic risk and family history, which includes personal medical history, increasingly influence medical care, but optimal methods for capturing the…
Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity
Many genetic loci affect circulating lipid levels, but it remains unknown whether lifestyle factors, such as physical activity, modify these…
Bisphenol A Exposure and Sperm ACHE Hydroxymethylation in Men
Exposure to bisphenol A (BPA) has been shown to impact human sperm quality. The epigenetic mechanisms underlying the effect remain…
A meta-analysis of two high-risk prospective cohort studies reveals autism-specific transcriptional changes to chromatin, autoimmune, and environmental response genes in umbilical cord blood
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects more than 1% of children in the USA. ASD risk…
Brief Report: Low Rates of Herpesvirus Detection in Blood of Individuals with Autism Spectrum Disorder and Controls
Previous research indicates that infection, especially from viruses in the family Herpesviridae, may play a role in the etiology of…
Genetic risk factors for pediatric-onset multiple sclerosis
Strong evidence supports the role of both genetic and environmental factors in pediatric-onset multiple sclerosis (POMS) etiology. We comprehensively investigated…
Risk of cardiovascular disease in women with BRCA1 and BRCA2 mutations
Estimate the prevalence of cardiovascular disease risk factors and endpoints in women with BRCA mutations. Women, age 40 and older,…
Population-Based Pharmacogenomic Assessment of QT Prolongation
Cardiotoxicity of commonly prescribed medications, typically assessed by electrocardiographic features such as prolongation of the QT interval, has regulatory effects…
Maternal Inflammation during Pregnancy and Neurodevelopmental Disorders
This study will utilize the Pregnancy Cohort from the Kaiser Permanente Northern California Research Program on Genes, Environment and Health…
Genetic Etiology of Abdominal Hernia Susceptibility
The objective of this project is to investigate the genetic mechanisms that drive the development of abdominal hernias. This study…
A functional splicing variant associated with decreased asthma risk abolishes the ability of gasdermin B (GSMDB) to induce epithelial cell pyroptosis
Genetic variants in the chromosomal region 17q21 are consistently associated with asthma. However, mechanistic studies have not yet linked any…
Genetic variation in the SIM1 locus is associated with erectile dysfunction
Erectile dysfunction affects millions of men worldwide. Twin studies support the role of genetic risk factors underlying erectile dysfunction, but…
A Large Multi-ethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci
Body mass index (BMI), a proxy measure for obesity, is determined by both environmental (including ethnicity, age, and sex) and…
A Pre-Pregnancy Biomarker Risk Score Improves Prediction of Future Gestational Diabetes
Previous studies have not examined the ability of multiple preconception biomarkers, considered together, to improve prediction of gestational diabetes mellitus…
Cross-genetic determination of maternal and neonatal immune mediators during pregnancy
The immune system plays a fundamental role in development during pregnancy and early life. Alterations in circulating maternal and neonatal…
Association of Bisphenol A Exposure with LINE-1 Hydroxymethylation in Human Semen
Bisphenol A (BPA), an exogenous endocrine-disrupting chemical, has been shown to alter DNA methylation. However, little information is available about…
AHR gene-dioxin interactions and birthweight in the Seveso Second Generation Health Study.
Background: 2, 3, 7, 8-tetrachlorodibenzo-p-dioxin (TCDD) is proposed to interfere with fetal growth via altered activity of the aryl hydrocarbon…
Incorporating machine learning approaches to assess putative environmental risk factors for multiple sclerosis
Multiple sclerosis (MS) incidence has increased recently, particularly in women, suggesting a possible role of one or more environmental exposures…
Exome Chip Analysis Identifies Low-Frequency and Rare Variants in MRPL38 for White Matter Hyperintensities on Brain Magnetic Resonance Imaging
Background and Purpose- White matter hyperintensities (WMH) on brain magnetic resonance imaging are typical signs of cerebral small vessel disease…
Early Identification and Prognosis in Neurodegenerative Parkinsonism
The goals of this study are to develop an efficient method for identification of people destined to develop a neurodegenerative…
The TGFβ-signaling pathway and colorectal cancer: associations between dysregulated genes and miRNAs
The TGFβ-signaling pathway plays an important role in the pathogenesis of colorectal cancer (CRC). Loss of function of several genes…
Genetic Variants in CPA6 and PRPF31 are Associated with Variation in Response to Metformin in Individuals with Type 2 Diabetes
Metformin is the first-line treatment for type 2 diabetes (T2D). Although widely prescribed, the glucose-lowering mechanism for metformin is incompletely…
A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci
Primary open-angle glaucoma (POAG) is a leading cause of irreversible vision loss, yet much of the genetic risk remains unaccounted…
The p53-signaling pathway and colorectal cancer: Interactions between downstream p53 target genes and miRNAs
We examined expression of genes in the p53-signaling pathway. We determine if genes that have significantly different expression in carcinoma…
Mendelian randomisation study of age at menarche and age at menopause and the risk of colorectal cancer
Substantial evidence supports an association between use of menopausal hormone therapy and decreased colorectal cancer (CRC) risk, indicating a role of…
Genetic variants in the HLA class II region associated with risk of cutaneous squamous cell carcinoma
The immune system has been implicated in the pathophysiology of cutaneous squamous cell carcinoma (cSCC) as evidenced by the substantially…
A Mixed-Effects Model for Powerful Association Tests in Integrative Functional Genomics
Genome-wide association studies (GWASs) have successfully identified thousands of genetic variants for many complex diseases; however, these variants explain only…
Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression
Major depressive disorder (MDD) is a common illness accompanied by considerable morbidity, mortality, costs, and heightened risk of suicide. We…
Weighted Multi-marker Genetic Risk Scores for Incident Coronary Heart Disease among Individuals of African, Latino and East-Asian Ancestry
We examined the clinical utility of two multi-locus genetic risk scores (GRSs) previously validated in Europeans among persons of African…
Eleven loci with new reproducible genetic associations with allergic disease risk
A recent genome-wide association study (GWAS) identified 99 loci that contain genetic risk variants shared between asthma, hay fever and…
The Bipolar Sequencing Consortium for Combined Analyses and Follow-Up
The International Bipolar Sequencing Consortium brings together whole-genome and exome sequence data from multiple case-control and family studies of bipolar…
Two Genetic Variants Associated with Plantar Fascial Disorders
Plantar fascial disorder is comprised of plantar fasciitis and plantar fibromatosis. Plantar fasciitis is the most common cause of heel…
A large electronic-health-record-based genome-wide study of serum lipids
A genome-wide association study (GWAS) of 94,674 ancestrally diverse Kaiser Permanente members using 478,866 longitudinal electronic health record (EHR)-derived measurements for…
Bone loss in women with BRCA1 and BRCA2 mutations
Estimate the prevalence and identify risk factors for bone loss in women with BRCA mutations. Women, age 40 and older,…
Susceptibility loci associated cutaneous squamous cell carcinoma invasiveness
Genome-wide association studies have identified genetic loci associated with cutaneous squamous cell carcinoma (cSCC) risk, but single-nucleotide polymorphism associations with…
Case-control meta-analysis of blood DNA methylation and autism spectrum disorder
Several reports have suggested a role for epigenetic mechanisms in ASD etiology. Epigenome-wide association studies (EWAS) in autism spectrum disorder…
Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries
Heavy alcohol consumption is an established risk factor for hypertension; the mechanism by which alcohol consumption impact blood pressure (BP)…
Cord blood buffy coat DNA methylation is comparable to whole cord blood methylation
Cord blood DNA methylation is associated with numerous health outcomes and environmental exposures. Whole cord blood DNA reflects all nucleated…
A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure
Elevated intraocular pressure (IOP) is a major risk factor for glaucoma, a leading cause of blindness. IOP heritability has been estimated…
Genome-wide association study identifies a locus associated with rotator cuff injury
Rotator cuff tears are common, especially in the fifth and sixth decades of life, but can also occur in the…
Predictive Modeling of the Risk of Age-related Macular Degeneration
The focus of this project is to examine the role of known genetic risk factors for age-related macular degeneration in…
Patient-Oriented Research and Mentoring Program in Dermatologic Diseases
This study aims to perform an internally validated genome-wide association study of actinic keratoses (AKs) in a group of patients…
A Genetic Marker Associated with De Quervain’s Tenosynovitis
De Quervain's tenosynovitis is a repetitive strain injury involving synovial inflammation of the tendons of the first extensor compartment of…
Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology
Asthma, hay fever (or allergic rhinitis) and eczema (or atopic dermatitis) often coexist in the same individuals, partly because of…
Cross-tissue integration of genetic and epigenetic data offers insight into autism spectrum disorder
Integration of emerging epigenetic information with autism spectrum disorder (ASD) genetic results may elucidate functional insights not possible via either…
Maternal BMI at the start of pregnancy and offspring epigenome-wide DNA methylation: findings from the pregnancy and childhood epigenetics (PACE) consortium
Pre-pregnancy maternal obesity is associated with adverse offspring outcomes at birth and later in life. Individual studies have shown that…
Genome-wide association study and meta-analysis in multiple populations identifies new loci for peanut allergy and establishes c11orf30/EMSY as a genetic risk factor for food allergy
Peanut allergy (PA) is a complex disease with both environmental and genetic risk factors. Previously PA loci were identified in…
The interaction between smoking and HLA genes in multiple sclerosis: replication and refinement
Interactions between environment and genetics may contribute to multiple sclerosis (MS) development. We investigated whether the previously observed interaction between…
Two genetic loci associated with ankle injury
Ankle injuries, including sprains, strains and other joint derangements and instability, are common, especially for athletes involved in indoor court…
Genetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study
Alcohol consumption is a complex trait determined by both genetic and environmental factors, and is correlated with the risk of…
Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium
PurposeThe Clinical Sequencing Exploratory Research (CSER) Consortium encompasses nine National Institutes of Health-funded U-award projects investigating translation of genomic sequencing…
Alzheimer’s disease genetic risk variants beyondAPOEε4 predict mortality
INTRODUCTION: We hypothesized that, like apolipoprotein E (APOE), other late-onset Alzheimer's disease (LOAD) genetic susceptibility loci predict mortality.METHODS: We used…
Prevalence of Drug-Resistant Minority Variants in Untreated HIV-1-Infected Individuals With and Those Without Transmitted Drug Resistance Detected by Sanger Sequencing
Minority variant human immunodeficiency virus type 1 (HIV-1) nonnucleoside reverse transcriptase inhibitor (NNRTI) resistance mutations are associated with an increased…
The Role of Refractive Error in the Etiology of Glaucoma
The specific aims of this study are to: 1) Determine whether refractive error predicts the development of glaucoma due to…
Two Genetic Loci associated with Medial Collateral Ligament Injury
Medial collateral ligament (MCL) injuries are a common knee injury, especially in competitive athletes. Identifying genetic loci associated with MCL…
A Genetic Marker Associated with Shoulder Dislocation
Shoulder dislocations are common shoulder injuries associated with athletic activity in contact sports, such as football, rugby, wrestling, and hockey.…
Maternal serum cytokine levels and risk of bipolar disorder
Prenatal exposure to influenza has previously been associated with increased risk of bipolar disorder (BD), an association that may be…
Variants in Pharmacokinetic Transporters and Glycaemic Response to Metformin: A MetGen Meta-Analysis
Therapeutic response to metformin, a first-line drug for type 2 diabetes (T2D), is highly variable, in part likely due to…
Evidence for a causal relationship between low vitamin D, high BMI, and pediatric-onset MS
To utilize Mendelian randomization to estimate the causal association between low serum vitamin D concentrations, increased body mass index (BMI),…
Genome-wide physical activity interactions in adiposity – A meta-analysis of 200,452 adults
Physical activity (PA) may modify the genetic effects that give rise to increased risk of obesity. To identify adiposity loci…
Genetic Biomarker Prevalence Is Similar in Fecal Immunochemical Test Positive and Negative Colorectal Cancer Tissue
Fecal immunochemical test (FIT) screening detects most asymptomatic colorectal cancers. Combining FIT screening with stool-based genetic biomarkers increases sensitivity for…
Independent Maternal and Fetal Genetic Effects on Mid-gestational Circulating Levels of Environmental Pollutants
Maternal exposure to environmental pollutants could affect fetal brain development and increase autism spectrum disorder (ASD) risk in conjunction with…
Susceptibility Genes for Erectile Dysfunction
This Multi-PI grant (H. Wessells, UW & S. Van Den Eeden KPNC) will 1) develop phenotyping algorithms, 2) examine genetic…
Replication of PheWAS for TRPV4 Variant in Kaiser Permanente GERA Cohort
We will use the RPGEH GERA cohort to investigate associations of genetic variation (SNP genotypes) with several related conditions, including…
Association between the Genomic Prostate Score and Metastatic Recurrence
The primary goal of the study is to confirm that the pre-specified Genomic Prostate Score (GPS) from biopsy tumor tissue…
Genome-Wide Association Study of Cutaneous Squamous Cell Carcinoma
Cutaneous squamous cell carcinoma (SCC) is the second most common cancer among people of European ancestry. The primary risk factor…
PGRN Administration Coordination Hub
This is the Administrative Coordination Hub for the Pharmacogenomics Research Network (PGRN). The main areas of responsibility include meetings support,…
Discovery of Pharmacogenomic Biomarkers for Metformin Response
The primary goal of this multi-site study is to identify genetic variants that impact response to metformin in patients with…
Genome-wide Pleiotropy Scan across Multiple Cancers
Understanding similarities among phenotypically distinct cancers could provide insight into biological basis of disease and suggest treatment overlap among patients…
Clinical and Translational Science Institute
The aim of this project is to foster collaborative research projects that employ the data resources of the Kaiser Permanente…
Genome-Wide Study of Hearing Impairment
More than 25% of individuals over age 65 and 50% of individuals over age 80 suffer from varying levels of…
Grant Development Work for Molecular Assay in Prostate Cancer
The goal of the study is to perform a retrospective study to evaluate biomarkers predictive of aggressive disease using Florescence…
Genomics of Blood Pressure-induced Target Organ Damage
The study’s aims are to: 1) ascertain the genomic contribution of common genetic variants to blood pressure (BP) variation within…
Defining a Comprehensive Reference Profile of Circulating Human Extracellular RNA: A CARDIA Ancillary Study
Blood and other body fluids harbor abundant and stable extracellular RNAs (exRNA) which are increasingly recognized as novel potential biomarkers…
Pharmacogenomics of Statin Therapy
This study will recruit statin users with: 1) a major acute coronary event (n=150), 2) new onset type 2 diabetes…
Role of ABCG2 in the Disposition and Anti-Hyperuricemic Effects of Allopurinol
The goal of this project is to investigate the role of ABCG2 in the disposition and anti-hyperuricemic effects of allopurinol.
Long-term Trends in Breast Cancer DNA Copy Number Alterations and Disparities
This R03 study will add new assays for DNA copy number alteration, building on our R21, which has obtained tumor…
Validation of a Set of Multilocus Genetic Risk Scores for Estimation of Coronary Risk across Ethnic Groups
The objective of this study is to validate an existing genetic risk score (GRS) based on eight genetic variants associated…
Association of Galectin-3 and High Sensitive Troponin-I level and Change with Calcified Coronary Plaque: A CARDIA Ancillary Study
This is a cohort study with observations at two points in time: Year 20 exam in 2005-06 (age range 38-50)…
BioBank Northern California – Regional
The KP Research Bank aims to recruit 280,000 members (200,000 in the general cohort, 30,000 in the cancer cohort, and…
Genetic Studies of Blood Cell Traits in Multi-Ethnic Cohorts
Blood cell traits, including red blood cell count (RBC), hemoglobin, white blood cell count (WBC) and platelet count, are important…
Health Disparities in Cardiovascular Disease Risk: From Genes to Neighborhoods
Specific aim 1: To examine cross-sectional associations between genetic and neighborhood factors, and their interactions (socioeconomic, physical/built, social) in relation…
Post-licensure Safety Surveillance Study of Menactra Vaccine When Administered as a 2-dose Schedule to Children 9 Months Through 23 Months of Age (MTA57)
In this project, we will conduct a case-control genome-wide association study to evaluate the human genome of who experienced a…
The Genetic Basis of Pediatric Cholestasis
The goal of this project is to identify new genes underlying pediatric cholestasis.
Causal Effect of Genetic Variants Associated With Body Mass Index on Multiple Sclerosis Susceptibility
Multiple sclerosis (MS) is an autoimmune disease with both genetic and environmental risk factors. Recent studies indicate that childhood and…
Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer
Prostate-specific antigen (PSA) levels have been used for detection and surveillance of prostate cancer (PCa). However, factors other than PCa-such…
Genome-Wide Association Study of Mammographic Density
Mammographic density (MD) is one of the strongest known risk factors for breast cancer. Our primary goal is to identify…
Carnitine palmitoyltransferase 1A P479L and infant death: policy implications of emerging data.
Carnitine palmitoyltransferase 1 isoform A (CPT1A) is a crucial enzyme for the transport of long-chain fatty acids into the mitochondria.…
Identification of DNA Methylation Markers for Risk of Metastasis in Localized Prostate Cancer
The overarching goal of this study is to develop DNA methylation marker-based prediction algorithms that will pave the way for…
Pharmacogenomics Study of Extreme Response to Metformin
In this collaboration with GlaxoSmithKline, University of California San Francisco and Kaiser Permanente Northern California, we propose to perform a…
Shared Genetics of Chronic Obstructive Pulmonary Disease and Lung Cancer
Although COPD strongly predisposes to lung cancer, and both share tobacco smoke exposure as an etiologic risk factor, few studies…
Optimizing Personalized Care Using Economic Studies of Genomic Testing
Personalized medicine uses diagnostic tests to improve patient outcomes and reduce harms of therapy. This project's objective is to develop…
Novel Strategies to Identify G x E Contributions to MS Pathogensis
The goal of the study is to examine potential gene X environment interactions in relation to risk and progression of…
Genome-Wide Association Study Identifies African-Specific Susceptibility Loci in African Americans With Inflammatory Bowel Disease
The inflammatory bowel diseases (IBD) ulcerative colitis (UC) and Crohn's disease (CD) cause significant morbidity and are increasing in prevalence…
Genome-wide association screens for Achilles tendon and ACL tears and tendinopathy
Achilles tendinopathy or rupture and anterior cruciate ligament (ACL) rupture are substantial injuries affecting athletes, associated with delayed recovery or…
Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation
Longitudinal electronic health records on 99,785 Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort individuals provided 1,342,814 systolic…
Genome-wide alteration in DNA hydroxymethylation in the sperm from bisphenol A-exposed men
Environmental BPA exposure has been shown to impact human sperm concentration and motility, as well as rodent spermatogenesis. However, it…
Umbilical cord blood androgen levels and ASD-related phenotypes at 12 and 36 months in an enriched risk cohort study
Autism spectrum disorder (ASD) affects more than 1% of children in the USA. The male-to-female prevalence ratio of roughly 4:1…
Placental genetic variations in vitamin D metabolism and birthweight
INTRODUCTION: Vitamin D has pleiotropic functions that regulate fetal growth and development. We investigated associations of common placental genetic variations…
Clinical Utility of Multi-marker Genetic Risk Scores for Prediction of Incident Coronary Heart Disease: A Cohort Study among over 51 Thousand Individuals of European Ancestry
We evaluated whether including multilocus genetic risk scores (GRSs) into the Framingham Risk Equation improves the predictive capacity, discrimination, and…
Genome-wide analysis identifies 12 loci influencing human reproductive behavior
The genetic architecture of human reproductive behavior-age at first birth (AFB) and number of children ever born (NEB)-has a strong…
Deep sequencing of HPV16 genomes: A new high-throughput tool for exploring the carcinogenicity and natural history of HPV16 infection
For unknown reasons, there is huge variability in risk conferred by different HPV types and, remarkably, strong differences even between…
The Kaiser Permanente Northern California research program on genes, environment, and health (RPGEH) pregnancy cohort: study design, methodology and baseline characteristics
Exposures during the prenatal period may have lasting effects on maternal and child health outcomes. To better understand the effects…
A Longitudinal HbA1c Model Elucidates Genes Linked to Disease Progression on Metformin
One-third of type-2 diabetic patients respond poorly to metformin. Despite extensive research, the impact of genetic and nongenetic factors on…
Pleiotropic Mechanisms Indicated for Sex Differences in Autism
Sexual dimorphism in common disease is pervasive, including a dramatic male preponderance in autism spectrum disorders (ASDs). Potential genetic explanations…
A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records
Age-related hearing impairment (ARHI), one of the most common sensory disorders, can be mitigated, but not cured or eliminated. To…
Mendelian randomization shows a causal effect of low vitamin D on multiple sclerosis risk
We sought to estimate the causal effect of low serum 25(OH)D on multiple sclerosis (MS) susceptibility that is not confounded…
The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals
To dissect the genetic architecture of blood pressure and assess effects on target organ damage, we analyzed 128,272 SNPs from…
Risk of Autism Associated With Hyperbilirubinemia and Phototherapy
Whether neonatal hyperbilirubinemia and/or phototherapy increase the risk of autism spectrum disorder (ASD) is unclear. We sought to quantify the…
Genome-wide association studies in oesophageal adenocarcinoma and Barrett’s oesophagus: a large-scale meta-analysis
Oesophageal adenocarcinoma represents one of the fastest rising cancers in high-income countries. Barrett's oesophagus is the premalignant precursor of oesophageal…
Variation in the glucose transporter gene SLC2A2 is associated with glycemic response to metformin
Metformin is the first-line antidiabetic drug with over 100 million users worldwide, yet its mechanism of action remains unclear. Here…
Leukocyte telomere length in relation to the risk of Barrett’s esophagus and esophageal adenocarcinoma
Chronic inflammation and oxidative damage caused by obesity, cigarette smoking, and chronic gastroesophageal reflux disease (GERD) are major risk factors…
The Association of Refractive Error with Glaucoma in a Multiethnic Population
To evaluate the association between refractive error and the prevalence of glaucoma by race or ethnicity. Cross-sectional study. Kaiser Permanente…
Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
We investigated the association between 52 risk variants identified through genome-wide association studies and disease severity in multiple sclerosis (MS).…
Association of Fibroblast Growth Factor 23 With Atrial Fibrillation in Chronic Kidney Disease, From the Chronic Renal Insufficiency Cohort Study
Levels of fibroblast growth factor 23 (FGF23) are elevated in chronic kidney disease (CKD) and strongly associated with left ventricular…
Trans-ethnic Meta-Analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin
Knowledge of the genetic basis of the type 2 diabetes (T2D)-related quantitative traits fasting glucose (FG) and insulin (FI) in…
Common coding variants in the HLA-DQB1 region confer susceptibility to age-related macular degeneration
Age-related macular degeneration (AMD) risk variants in the complement system point to the important role of immune response and inflammation…
Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma
We report a genome-wide association study of cutaneous squamous cell carcinoma conducted among non-Hispanic white members of the Kaiser Permanente…
Breast cancer multigene testing trends and impact on chemotherapy use
A 21-gene test that predicts recurrence risk among women with hormone receptor positive (HR+), localized breast cancer was nationally recommended…
Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat
To identify loci associated with abdominal fat and replicate prior findings, we performed genome-wide association (GWA) studies of abdominal fat…
Cytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in Cerebral Cavernous Malformation type 1
BACKGROUND:Familial Cerebral Cavernous Malformation type 1 (CCM1) is an autosomal dominant disease caused by mutations in the Krev Interaction Trapped…
Health Services Utilization Among Children With and Without Autism Spectrum Disorders
Using data from multiple health systems (2009-2010) and the largest sample to date, this study compares health services use among…
Peripheral Blood Leukocyte Production of BDNF following Mitogen Stimulation in Early Onset and Regressive Autism
Brain-derived neurotrophic factor (BDNF) is critical for neuronal differentiation and synaptic development. BDNF is also implicated in the development of…
Parental Views on Expanded Newborn Screening Using Whole-Genome Sequencing
The potential application of whole-genome sequencing (WGS) to state-mandated standard newborn screening (NBS) challenges the traditional public health approach to…
Presence of an epigenetic signature of prenatal cigarette smoke exposure in childhood
Prenatal exposure to tobacco smoke has lifelong health consequences. Epigenetic signatures such as differences in DNA methylation (DNAm) may be…
Genetics, Diet, and Season Are Associated with Serum 25-Hydroxycholecalciferol Concentration in a Yup’ik Study Population from Southwestern Alaska.
BACKGROUND:Low blood vitamin D concentration is a concern for people living in circumpolar regions, where sunlight is insufficient for vitamin…
Maternal Infection During Pregnancy and Autism Spectrum Disorders
We conducted a nested case-control study including 407 cases and 2,075 frequency matched controls to investigate the association between maternal…
Susceptibility Loci for Clinical CAD and Subclinical Coronary Atherosclerosis Throughout the Life-Course
Recent genome-wide association studies have identified 49 single nucleotide polymorphisms associated with clinical coronary artery disease. The mechanism by which…
Diabetes Pathology and Risk of Primary Open-Angle Glaucoma: Evaluating Causal Mechanisms by Using Genetic Information
Although type 2 diabetes (T2D) predicts glaucoma, the potential for unmeasured confounding has hampered causal conclusions. We performed separate sample…
Polymorphisms In HLA Class II Genes Are Associated With Susceptibility To Staphylococcus aureus Infection In A Caucasian Population
Staphylococcus aureus (S. aureus) can cause life-threatening infections. Human susceptibility to S. aureus infection may be influenced by host genetic…
Leukocyte Telomere Length and Risks of Incident Coronary Heart Disease and Mortality in a Racially Diverse Population of Postmenopausal Women
Telomeres are regions at the ends of chromosomes that maintain chromosomal structural integrity and genomic stability. In studies of mainly…
Genetics of cerebral cavernous malformations: current status and future prospects
Cerebral cavernous malformations (CCM) are vascular lesions which affect up to 0.5% of the general population, predisposing to headaches, seizures,…
Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort
Using genome-wide genotypes, we characterized the genetic structure of 103,006 participants in the Kaiser Permanente Northern California multi-ethnic Genetic Epidemiology…
Automated Assay of Telomere Length Measurement and Informatics for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort
The Kaiser Permanente Research Program on Genes, Environment, and Health (RPGEH) Genetic Epidemiology Research on Adult Health and Aging (GERA)…
Genotyping Informatics and Quality Control for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort
The Kaiser Permanente (KP) Research Program on Genes, Environment and Health (RPGEH), in collaboration with the University of California-San Francisco,…
A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences
A genome-wide association study (GWAS) of prostate cancer in Kaiser Permanente health plan members (7,783 cases, 38,595 controls; 80.3% non-Hispanic…
Paternal sperm DNA methylation associated with early signs of autism risk in an autism-enriched cohort
Epigenetic mechanisms such as altered DNA methylation have been suggested to play a role in autism, beginning with the classical…
Serum Fractalkine (CX3CL1) and Cardiovascular Outcomes and Diabetes: Findings From the Chronic Renal Insufficiency Cohort (CRIC) Study
Cardiometabolic disease is a major cause of morbidity and mortality in persons with chronic kidney disease (CKD). Fractalkine (CX3CL1) is…
Differences in the Genetic Susceptibility to Age-Related Macular Degeneration Clinical Subtypes
We compared across age-related macular degeneration (AMD) subtypes the effect of AMD risk variants, their predictive power, and heritability. The…
Variation in genes controlling warfarin disposition and response in American Indian and Alaska Native people: CYP2C9, VKORC1, CYP4F2, CYP4F11, GGCX.
OBJECTIVES:Pharmacogenetic testing is projected to improve health outcomes and reduce the cost of care by increasing therapeutic efficacy and minimizing…
Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response
The first-line treatment of hyperuricemia, which causes gout, is allopurinol. The allopurinol response is highly variable, with many users failing…
Evaluation of genetic risk loci for intracranial aneurysms in sporadic arteriovenous malformations of the brain
In genome-wide association studies (GWAS) five putative risk loci are associated with intracranial aneurysm. As brain arteriovenous malformations (AVM) and…
Multi-Ethnic Genome-Wide Association Study of Cerebral White Matter Hyperintensities on MRI
The burden of cerebral white matter hyperintensities (WMH) is associated with an increased risk of stroke, dementia, and death. WMH…
Stakeholder engagement in policy development: challenges and opportunities for human genomics
Along with rapid advances in human genomics, policies governing genomic data and clinical technologies have proliferated. Stakeholder engagement is widely…
Increased female autosomal burden of rare copy number variants in human populations and in autism families
Autosomal genetic variation is presumed equivalent in males and females and makes a major contribution to disease risk. We set…
Polymorphisms Near TBX5 and GDF7 Are Associated With Increased Risk for Barrett’s Esophagus
Barrett's esophagus (BE) increases the risk of esophageal adenocarcinoma (EAC). We found the risk to be BE has been associated…
A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia
Inguinal hernia repair is one of the most commonly performed operations in the world, yet little is known about the…
Imputation of the Rare HOXB13 G84E Mutation and Cancer Risk in a Large Population-Based Cohort
An efficient approach to characterizing the disease burden of rare genetic variants is to impute them into large well-phenotyped cohorts…
Polymorphisms in Genes of Relevance for Oestrogen and Oxytocin Pathways and Risk of Barrett’s Oesophagus and Oesophageal Adenocarcinoma: A Pooled Analysis from the BEACON Consortium
The strong male predominance in oesophageal adenocarcinoma (OAC) and Barrett's oesophagus (BO) continues to puzzle. Hormonal influence, e.g. oestrogen or…
The Study to Understand the Genetics of the Acute Response to Metformin and Glipizide in Humans (SUGAR-MGH): Design of a pharmacogenetic Resource for Type 2 Diabetes
Genome-wide association studies have uncovered a large number of genetic variants associated with type 2 diabetes or related phenotypes. In…
Genome-wide association and admixture analysis of glaucoma in the Women’s Health Initiative
We report a genome-wide association study (GWAS) and admixture analysis of glaucoma in 12 008 African-American and Hispanic women (age…
Interaction between passive smoking and two HLA genes with regard to multiple sclerosis risk
The recently described interaction between smoking, human leukocyte antigen (HLA) DRB1*15 and absence of HLA-A*02 with regard to multiple sclerosis…
Seroprevalence of Aquaporin-4-IgG in a Northern California Population Representative Cohort of Multiple Sclerosis
Using an aquaporin-4 (AQP4) M1-isoform-specific enzyme-linked immunosorbent assay (ELISA) and a fixed transfected cell-based assay (CBA), we tested AQP4-IgG in…
Estimating genotype error rates from high-coverage next-generation sequence data
Exome and whole-genome sequencing studies are becoming increasingly common, but little is known about the accuracy of the genotype calls…
Common variants on 9p21.3 are associated with brain arteriovenous malformations with accompanying arterial aneurysms
To investigate whether previously reported 9p21.3 single nucleotide polymorphisms (SNPs) are associated with risk of brain arteriovenous malformations (BAVM), which…
Defining the role of common variation in the genomic and biological architecture of adult human height
Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability…
Familial Recurrence of Autism Spectrum Disorder: Evaluating Genetic and Environmental Contributions
This study was designed to examine the pattern of familial recurrence of autism spectrum disorder (ASD) in terms of genetic…
Obesity during childhood and adolescence increases susceptibility to multiple sclerosis after accounting for established genetic and environmental risk factors
To investigate the association between obesity and multiple sclerosis (MS) while accounting for established genetic and environmental risk factors. Participants…
Short QT in a Cohort of 1.7 Million Persons: Prevalence, Correlates, and Prognosis
Short QT syndrome (QTc ? 300 ms) is a novel hereditary channelopathy linked to syncope, paroxysmal atrial fibrillation, and sudden…
Cross-cancer pleiotropic analysis of endometrial cancer: PAGE and E2C2 consortia
Genome-wide association studies (GWAS) have identified a large number of cancer-associated single nucleotide polymorphisms (SNPs), several of which have been…
Genetic Variants in Transcription Factors Are Associated With the Pharmacokinetics and Pharmacodynamics of Metformin
One-third of type 2 diabetes patients do not respond to metformin. Genetic variants in metformin transporters have been extensively studied…
Genetic risk score for prediction of newborn adiposity and large-for-gestational-age birth
CONTEXT: Macrosomic infants are at increased risk for adverse metabolic outcomes. Improving prediction of large-for-gestational-age (LGA) birth may help prevent…
Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer
The Multi-Society Task Force, in collaboration with invited experts, developed guidelines to assist health care providers with the appropriate provision…
Association between alcohol and cardiovascular disease; Mendelian randomisation analysis based on individual participant data
To use the rs1229984 variant in the alcohol dehydrogenase 1B gene (ADH1B) as an instrument to investigate the causal role…
Smoking and Risk of Multiple Sclerosis: Evidence of Modification by NAT1 Variants
Tobacco smoke is an established risk factor for multiple sclerosis (MS). We hypothesized that variation in genes involved in metabolism…
Considering the Value of Dietary Assessment Data in Informing Nutrition-Related Health Policy
Dietary assessment has long been known to be challenged by measurement error. A substantial amount of literature on methods for…
Determining Source Strength of Semivolatile Organic Compounds using Measured Concentrations in Indoor Dust
Consumer products and building materials emit a number of semivolatile organic compounds (SVOCs) in the indoor environment. Because indoor SVOCs…
Intrinsic subtypes from the PAM50 gene expression assay in a population-based breast cancer survivor cohort: Prognostication of short and long term outcomes
The PAM50, a gene expression assay to categorize breast tumors into intrinsic subtypes, has not been previously used to examine…
DNA methylation profile associated with rapid decline in kidney function: findings from the CRIC Study
Epigenetic mechanisms may be important in the progression of chronic kidney disease (CKD). We studied the genome-wide DNA methylation pattern…
Interaction between adolescent obesity and HLA risk genes in the etiology of multiple sclerosis
We investigated potential interactions between human leukocyte antigen (HLA) genotype and body mass index (BMI) status in relation to the…
Fibroblast Growth Factor-23 and Cardiovascular Events in CKD
An elevated level of fibroblast growth factor-23 (FGF-23) is the earliest abnormality of mineral metabolism in CKD. High FGF-23 levels…
Neuropsychological deficits in major depression reflect genetic/familial risk more than clinical history: a monozygotic discordant twin-pair study
Neuropsychological deficits have been associated with major depression (MD) and persist in some individuals even after symptom remission. However, it…
Polymorphisms in inflammatory and immune response genes associated with cerebral cavernous malformation type 1 severity
BACKGROUND:Familial cerebral cavernous malformation type 1 (CCM1) is an autosomal dominant disease caused by mutations in the Krev Interaction Trapped…
Stem cells guided gene therapy of cancer: New frontier in personalized and targeted therapy
Introduction: Bevacizumab was approved for treatment of advanced non-squamous, non-small cell lung cancer (NSCLC) in the US in late 2006.…
Neonatal cytokines and chemokines and risk of Autism Spectrum Disorder: the Early Markers for Autism (EMA) study: a case-control study
Biologic markers of infection and inflammation have been associated with Autism Spectrum Disorders (ASD) but prior studies have largely relied…
A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett’s esophagus
Esophageal adenocarcinoma is a cancer with rising incidence and poor survival. Most such cancers arise in a specialized intestinal metaplastic…
Germline Genetic Contributions to Risk for Esophageal Adenocarcinoma, Barrett’s Esophagus, and Gastroesophageal Reflux
Esophageal adenocarcinoma (EA) is an increasingly common cancer with poor survival. Barrett's esophagus (BE) is the main precursor to EA,…
Fine-Mapping the Genetic Association of the Major Histocompatibility Complex in Multiple Sclerosis: HLA and Non-HLA Effects
The major histocompatibility complex (MHC) region is strongly associated with multiple sclerosis (MS) susceptibility. HLA-DRB1*15:01 has the strongest effect, and…
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis
Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal…
Common variants associated with plasma triglycerides and risk for coronary artery disease
Triglycerides are transported in plasma by specific triglyceride-rich lipoproteins; in epidemiological studies, increased triglyceride levels correlate with higher risk for…
Validation of a population-based method to assess drug-induced alterations in the QT interval: a self-controlled crossover study
The purpose of this study was to ascertain, in the context of an integrated health care delivery system, the association…
Discovery and refinement of loci associated with lipid levels
Levels of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, triglycerides and total cholesterol are heritable, modifiable risk factors for…
Socioeconomic Status and Lung Cancer: Unraveling the Contribution of Genetic Admixture
OBJECTIVES: We examined the relationship between genetic ancestry, socioeconomic status (SES), and lung cancer among African Americans and Latinos. METHODS:…
African American race but not genome-wide ancestry is negatively associated with atrial fibrillation among postmenopausal women in the Women’s Health Initiative
Atrial fibrillation (AF) is the most common arrhythmia in women and is associated with higher rates of stroke and death.…
Candidate Gene Association Study of Coronary Artery Calcification in Chronic Kidney Disease: Findings from the Chronic Renal Insufficiency Cohort Study
OBJECTIVES: This study sought to identify loci for coronary artery calcification (CAC) in patients with chronic kidney disease (CKD). BACKGROUND:…
Examination of rare missense variants in the CHRNA5-A3-B4 gene cluster to level of response to alcohol in the San Diego Sibling Pair study
BACKGROUND:Common variants in the CHRNA5-A3-B4 gene cluster have been shown to be associated with nicotine dependence and alcohol use disorders…
Dietary flavonol intake is associated with age of puberty in a longitudinal cohort of girls
Lignans and flavonols are dietary phytoestrogens found at high concentrations in the Western Diet. They have potential to influence the…
Genome-wide Characterization of Shared and Distinct Genetic Components that Influence Blood Lipid Levels in Ethnically Diverse Human Populations
Blood lipid concentrations are heritable risk factors associated with atherosclerosis and cardiovascular diseases. Lipid traits exhibit considerable variation among populations…
Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits
Given the anthropometric differences between men and women and previous evidence of sex-difference in genetic effects, we conducted a genome-wide…
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders
Elevated resting heart rate is associated with greater risk of cardiovascular disease and mortality. In a 2-stage meta-analysis of genome-wide…
The impact of improved microarray coverage and larger sample sizes on future genome-wide association studies
Genome-wide association studies (GWAS) have identified many single nucleotide polymorphisms (SNPs) associated with complex traits. However, the genetic heritability of…
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether…
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm
The major active retinoid, all-trans retinoic acid, has long been recognized as critical for the development of several organs, including…
Genetic analysis of a population heavy drinking phenotype identifies risk variants in whites
Genetic association studies thus far have used detailed diagnoses of alcoholism to identify loci associated with risk. This proof-of-concept analysis…
Genetic susceptibility testing for chronic disease and intention for behavior change in healthy young adults
Genetic testing for chronic disease susceptibility may motivate young adults for preventive behavior change. This nationally representative survey gave 521…
Association Between the Chromosome 9p21 Locus and Angiographic Coronary Artery Disease Burden: A Collaborative Meta-Analysis
OBJECTIVES: This study sought to ascertain the relationship of 9p21 locus with: 1) angiographic coronary artery disease (CAD) burden; and…
Contribution of common PCSK1 genetic variants to obesity in 8,359 subjects from multi-ethnic American population
Common PCSK1 variants (notably rs6232 and rs6235) have been shown to be associated with obesity in European, Asian and Mexican…
Association between blood pressure and DNA methylation of retrotransposons and pro-inflammatory genes
BACKGROUND:Methylation of deoxyribonucleic acid (DNA) is an epigenetic regulator of gene expression that changes with age, but its contribution to…
A genome-wide survey of transgenerational genetic effects in autism
Effects of parental genotype or parent-offspring genetic interaction are well established in model organisms for a variety of traits. However,…
Sequencing of the IL6 gene in a case–control study of cerebral palsy in children
Cerebral palsy (CP) is a group of nonprogressive disorders of movement and posture caused by abnormal development of, or damage…
A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation
Brain arteriovenous malformations (BAVM) are clusters of abnormal blood vessels, with shunting of blood from the arterial to venous circulation…
Large-scale association analysis identifies new risk loci for coronary artery disease
Coronary artery disease (CAD) is the commonest cause of death. Here, we report an association analysis in 63,746 CAD cases…
Accelerated Cell Aging in Female APOE-epsilon4 Carriers: Implications for Hormone Therapy Use
Apolipoprotein-epsilon4 (APOE-epsilon4) is a major genetic risk factor for cognitive decline, Alzheimer's disease (AD) and early mortality. An accelerated rate…
Genetic risk factors for perinatal arterial ischemic stroke
The cause of perinatal arterial ischemic stroke is unknown in most cases. We explored whether genetic polymorphisms modify the risk…
Adult asthma and risk of coronary heart disease, cerebrovascular disease, and heart failure: a prospective study of 2 matched cohorts
Asthma has been associated with increased cardiovascular disease (CVD) risk. The authors ascertained the association of asthma with CVD and…
G Protein-Coupled Receptor 124 (GPR124) Gene Polymorphisms and Risk of Brain Arteriovenous Malformation
Abnormal endothelial proliferation and angiogenesis may contribute to brain arteriovenous malformation (BAVM) formation. G protein-coupled receptor 124 (GPR124) mediates embryonic…
FTO genotype is associated with phenotypic variability of body mass index
There is evidence across several species for genetic control of phenotypic variation of complex traits, such that the variance among…
Shared genetic contributions to early-onset drinking and drinking to cope motives
INTRODUCTION: Recent evidence from empirical studies indicates that individuals who begin drinking at an early age may be more likely…
Genetic Counseling as a Tool for Type 2 Diabetes Prevention: A Genetic Counseling Framework for Common Polygenetic Disorders
Advances in genetic epidemiology have increased understanding of common, polygenic preventable diseases such as type 2 diabetes. As genetic risk…
Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett’s esophagus
Barrett's esophagus is an increasingly common disease that is strongly associated with reflux of stomach acid and usually a hiatus…
Estimating kinship in admixed populations
Genome-wide association studies (GWASs) are commonly used for the mapping of genetic loci that influence complex traits. A problem that…
Plasma signaling proteins in persons at genetic risk for Alzheimer disease: influence of APOE genotype.
OBJECTIVE:To study the effect of familial Alzheimer disease (FAD) mutations and APOE genotype on plasma signaling protein levels.DESIGN:Cross-sectional comparison of…
New Models for Large Prospective Studies: Is There a Better Way?
Large prospective cohort studies are critical for identifying etiologic factors for disease, but they require substantial long-term research investment. Such…
California Very Preterm Birth Study: design and characteristics of the population- and biospecimen bank-based nested case-control study
Very preterm birth (VPTB) is a leading cause of infant mortality, morbidity and racial disparity in the US. The underlying…
Association between serum interleukin-6 concentrations and mortality in older adults: the Rancho Bernardo study.
BACKGROUND: Interleukin-6 (IL-6) may have a protective role in acute liver disease but a detrimental effect in chronic liver disease.…
Gene-centric analysis of serum cotinine levels in African and European American populations
To date, most genetic association studies of tobacco use have been conducted in European American subjects using the phenotype of…
Dysfunction of lipid sensor GPR120 leads to obesity in both mouse and human
Free fatty acids provide an important energy source as nutrients, and act as signalling molecules in various cellular processes. Several…
Age-related somatic structural changes in the nuclear genome of human blood cells
Structural variations are among the most frequent interindividual genetic differences in the human genome. The frequency and distribution of de…
Heterozygous mutations causing partial prohormone convertase 1 deficiency contribute to human obesity
Null mutations in the PCSK1 gene, encoding the proprotein convertase 1/3 (PC1/3), cause recessive monogenic early onset obesity. Frequent coding…
Genetic variants and environmental factors associated with hormonal markers of ovarian reserve in Caucasian and African American women
BACKGROUND: The ovarian reserve (number and quality of oocytes) is correlated with reproductive potential as well as somatic health, and…
Telomerase, telomere length, and coronary artery calcium in black and white men in the CARDIA study
OBJECTIVE: To evaluate whether telomerase activity, measured in circulating blood leukocytes, might be associated with prevalent atherosclerosis, or predict future…
A genome-wide association search for type 2 diabetes genes in african americans
African Americans are disproportionately affected by type 2 diabetes (T2DM) yet few studies have examined T2DM using genome-wide association approaches…
Differentiating Population Stratification from Genotyping Error Using Family Data
Identifying population stratification and genotyping error are important for candidate gene association studies using the Transmission Disequilibrium Test (TDT). Although…
A High-Density Genome-Wide Association Screen of Sporadic ALS in US Veterans
Following reports of an increased incidence of amyotrophic lateral sclerosis (ALS) in U.S. veterans, we have conducted a high-density genome-wide…
Genetic Epidemiology and Gene Discovery in Epilepsy
Recent genetic research has led to the identification of a significant number of genes with a major influence on epilepsy,…
Design and coverage of high throughput genotyping arrays optimized for individuals of East Asian, African American, and Latino race/ethnicity using imputation and a novel hybrid SNP selection algorithm
Four custom Axiom genotyping arrays were designed for a genome-wide association (GWA) study of 100,000 participants from the Kaiser Permanente…
Candidate Genes and Risk for Cerebral Palsy: a Population-Based Study
Studies suggest that genetic polymorphisms may increase an individual's susceptibility to CP. Most findings have yet to be corroborated in…
Prenatal exposure to beta2-adrenergic receptor agonists and risk of autism spectrum disorders
This study aims to investigate the association between prenatal exposure to terbutaline and other beta2 adrenergic receptor (B2AR) agonists and…
Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism
CONTEXT: Autism is considered the most heritable of neurodevelopmental disorders, mainly because of the large difference in concordance rates between…
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk
Blood pressure is a heritable trait influenced by several biological pathways and responsive to environmental stimuli. Over one billion people…
Is rigorous retrospective harmonization possible? Application of the DataSHaPER approach across 53 large studies.
BACKGROUND: Proper understanding of the roles of, and interactions between genetic, lifestyle, environmental and psycho-social factors in determining the risk…
Autonomic and adrenocortical reactivity and buccal cell telomere length in kindergarten children
OBJECTIVE: To examine associations between autonomic nervous system and adrenocortical reactivity to laboratory stressors and buccal cell telomere length (BTL)…
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes…
Increased midgestational IFN-gamma, IL-4 and IL-5 in women bearing a child with autism: A case-control study
ABSTRACT: BACKGROUND: Immune anomalies have been documented in individuals with autism spectrum disorders (ASDs) and their family members. It is…
Next generation genome-wide association tool: design and coverage of a high-throughput European-optimized SNP array
The success of genome-wide association studies has paralleled the development of efficient genotyping technologies. We describe the development of a…
SNP-by-fitness and SNP-by-BMI interactions from seven candidate genes and incident hypertension after 20 years of follow-up: the CARDIA Fitness Study
The association of single nucleotide polymorphisms (SNPs) from seven candidate genes, including genotype-by-baseline fitness and genotype-by-baseline body mass index (BMI)…
Heritability and longitudinal stability of schizotypal traits during adolescence
The study investigated the genetic and environmental etiology of schizotypal personality traits in a non-selected sample of adolescent twins, measured…
The influence of gene-environment interactions on alcohol consumption and alcohol use disorders: a comprehensive review
Since 2005, a rapidly expanding literature has evaluated whether environmental factors such as socio-cultural context and adversity interact with genetic…
Coffee; ADORA2A; and CYP1A2: the caffeine connection in Parkinson’s disease
BACKGROUND AND PURPOSE: In 1-methyl-4-phenyl 1,2,3,6-tetrahydropyridine animal models of Parkinson's disease (PD), caffeine protects neurons by blocking the adenosine receptor…
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium
OBJECTIVE The metabolic syndrome (MetS) is defined as concomitant disorders of lipid and glucose metabolism; central obesity; and high blood…
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
We performed a meta-analysis of 14 genome-wide association studies of coronary artery disease (CAD) comprising 22,233 individuals with CAD (cases)…
Circulating angiopoietins-1 and -2, angiopoietin receptor Tie-2 and vascular endothelial growth factor-A as biomarkers of acute myocardial infarction: a prospective nested case-control study
BACKGROUND: Angiogenesis is up-regulated in myocardial ischemia. However, limited data exist assessing the value of circulating angiogenic biomarkers in predicting…
History shaped the geographic distribution of genomic admixture on the island of Puerto Rico
Contemporary genetic variation among Latin Americans human groups reflects population migrations shaped by complex historical, social and economic factors. Consequently,…
Angiopoietin-like 4 (ANGPTL4) gene polymorphisms and risk of brain arteriovenous malformations
BACKGROUND: Brain arteriovenous malformations (BAVM) are high-flow vascular lesions prone to intracranial hemorrhage (ICH). Abnormal angiogenesis is a key characteristic…
Common variants in P2RY11 are associated with narcolepsy
Growing evidence supports the hypothesis that narcolepsy with cataplexy is an autoimmune disease. We here report genome-wide association analyses for…
Racial variation in lipoprotein-associated phospholipase A in older adults
BACKGROUND: Lipoprotein-associated phospholipase A(2) (Lp-PLA(2)) is a predictor of cardiovascular events that has been shown to vary with race. The…
Association of single-nucleotide polymorphisms from 17 candidate genes with baseline symptom-limited exercise test duration and decrease in duration over 20 years: the Coronary Artery Risk Development in Young Adults (CARDIA) fitness study
BACKGROUND: It is not known whether the genes involved with endurance performance during young adulthood are also involved with changes…
Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies
OBJECTIVES: We sought to replicate the association between the kinesin-like protein 6 (KIF6) Trp719Arg polymorphism (rs20455), and clinical coronary artery…
Testing for non-random mating: evidence for ancestry-related assortative mating in the Framingham heart study
Population stratification leads to a predictable phenomenon-a reduction in the number of heterozygotes compared to that calculated assuming Hardy-Weinberg Equilibrium…
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for…
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution
Waist-hip ratio (WHR) is a measure of body fat distribution and a predictor of metabolic consequences independent of overall adiposity.…
Hundreds of variants clustered in genomic loci and biological pathways affect human height
Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence…
Fine mapping of chromosome 15q25.1 lung cancer susceptibility in African-Americans
Several genome-wide association studies identified the chr15q25.1 region, which includes three nicotinic cholinergic receptor genes (CHRNA5-B4) and the cell proliferation…
Breast cancer DNA methylation profiles are associated with tumor size and alcohol and folate intake
Although tumor size and lymph node involvement are the current cornerstones of breast cancer prognosis, they have not been extensively…
An ‘almost exhaustive’ search-based sequential permutation method for detecting epistasis in disease association studies
Due to the complex nature of common diseases, their etiology is likely to involve 'uncommon but strong' (UBS) interactive effects--i.e.…
Human genetic variation recognizes functional elements in noncoding sequence
Noncoding DNA, particularly intronic DNA, harbors important functional elements that affect gene expression and RNA splicing. Yet, it is unclear…
A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33
We conducted a genome-wide association study of pancreatic cancer in 3,851 affected individuals (cases) and 3,934 unaffected controls drawn from…
Reduced expression of integrin alphavbeta8 is associated with brain arteriovenous malformation pathogenesis
Brain arteriovenous malformations (BAVMs) are a rare but potentially devastating hemorrhagic disease. Transforming growth factor-beta signaling is required for proper…
Lipoprotein-associated phospholipase A2 and C-reactive protein for measurement of inflammatory risk: Independent or complementary?
The purpose of this article is to review the evidence concerning the utility of lipoprotein-associated phospholipase A2 (Lp-PLA2), a key…
Assessing tumor mutations to gain insight into base excision repair sequence polymorphisms and smoking in colon cancer
DNA repair enzymes function in major pathways to reverse DNA damage, including base excision repair (BER). Missense polymorphisms in BER…
Ancestry-related assortative mating in Latino populations
BACKGROUND: While spouse correlations have been documented for numerous traits, no prior studies have assessed assortative mating for genetic ancestry…
MSH6 G39E polymorphism and CpG island methylator phenotype in colon cancer
The MSH6 G39E germline polymorphism is not associated with an increased risk of either microsatellite stable or unstable sporadic colorectal…
Interleukin-6 genotype and risk for cerebral palsy in term and near-term infants
OBJECTIVE: Chorioamnionitis is associated with increased risk for cerebral palsy (CP) in term infants. A functional polymorphism in the interleukin-6…
Variation in the FGFR2 gene and the effects of postmenopausal hormone therapy on invasive breast cancer
BACKGROUND: Breast cancer concern is a major reason for the recent marked reduction in use of postmenopausal hormone therapy, although…
Microsatellite instability and survival in rectal cancer
OBJECTIVE: High levels of microsatellite instability (MSI-H) have been associated in many studies with improved prognosis in colon cancer. Very…
Candidate genes for respiratory disease associated with markers of inflammation and endothelial dysfunction in elderly men
BACKGROUND:Inflammation and endothelial dysfunction are important risk factors for cardiovascular disease (CVD). We hypothesized that candidate genes selected for a…
EPHB4 gene polymorphisms and risk of intracranial hemorrhage in patients with brain arteriovenous malformations
BACKGROUND: Brain arteriovenous malformations (BAVMs) are a tangle of abnormal vessels directly shunting blood from the arterial to venous circulation…
Tumor markers and rectal cancer: support for an inflammation-related pathway
Inflammation may be a key element in the etiology of colorectal cancer. In our study, we examine associations between factors…
Vitamin D related genes, CYP24A1 and CYP27B1, and colon cancer risk
Genetic association studies investigating the role of vitamin D in colon cancer have primarily focused on the vitamin D receptor…
The inflammatory response in transgastric surgery: gastric content leak leads to localized inflammatory response and higher adhesive disease.
BACKGROUND: Risk of gastric spillage during transgastric surgery is a potential complication of NOTES procedures. The aim of this study…
Interaction between the serotonin transporter gene (5-HTTLPR), stressful life events, and risk of depression: a meta-analysis
CONTEXT: Substantial resources are being devoted to identify candidate genes for complex mental and behavioral disorders through inclusion of environmental…
Admixture mapping of quantitative trait loci for BMI in African Americans: evidence for loci on chromosomes 3q, 5q, and 15q
Obesity is a heritable trait and a major risk factor for highly prevalent common diseases such as hypertension and type…
Admixture mapping of quantitative trait loci for blood lipids in African-Americans
Blood lipid levels, including low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C) and triglycerides (TG), are highly heritable traits and…
Characterizing the admixed African ancestry of African Americans
BACKGROUND: Accurate, high-throughput genotyping allows the fine characterization of genetic ancestry. Here we applied recently developed statistical and computational techniques…
Common variants in interleukin-1-Beta gene are associated with intracranial hemorrhage and susceptibility to brain arteriovenous malformation
BACKGROUND: Polymorphisms in the proinflammatory cytokine interleukin (IL)-1beta gene have been associated with systemic atherogenesis, thrombosis and rupture. The aim…
Peroxisome proliferator-activated receptor gamma polymorphisms and coronary heart disease
Single nucleotide polymorphisms (SNPs) in the peroxisome proliferator-activated receptor gamma (PPARG) gene have been associated with cardiovascular risk factors, particularly…
Base excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African-Americans
Base excision repair (BER) is the primary DNA damage repair mechanism for repairing small base lesions resulting from oxidation and…
Hemochromatosis gene status as a risk factor for Barrett’s esophagus
Conditions causing high iron levels, such as hemochromatosis, are proposed risk factors for esophageal adenocarcinoma. Although this hypothesis is supported…
Nucleotide excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African Americans
Few studies on the association between nucleotide excision repair (NER) variants and lung cancer risk have included Latinos and African…
Mutation rates of TGFBR2 and ACVR2 coding microsatellites in human cells with defective DNA mismatch repair.
Microsatellite instability promotes colonic tumorigenesis through generating frameshift mutations at coding microsatellites of tumor suppressor genes, such as TGFBR2 and…
Genome-wide distribution of ancestry in Mexican Americans
Migrations to the new world brought together individuals from Europe, Africa and the Americans. Inter-mating between these migrant and indigenous…
The MLH1 -93 G>A promoter polymorphism and genetic and epigenetic alterations in colon cancer
The MLH1 -93 G>A promoter polymorphism has been reported to be associated with an increased risk of microsatellite unstable colorectal…
Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study
A susceptibility locus for coronary artery disease (CAD) at chromosome 9p21 has recently been reported, which may influence the age…
Polymorphisms of the IL1-receptor antagonist gene (IL1RN) are associated with multiple markers of systemic inflammation
BACKGROUND: Circulating levels of acute phase reactant proteins such as plasma C-reactive protein (CRP) are likely influenced by multiple genes…
Genome-wide screen for asthma in Puerto Ricans: evidence for association with 5q23 region
While the number of success stories for mapping genes associated with complex diseases using genome-wide association approaches is growing, there…
Common polymorphisms of ALOX5 and ALOX5AP and risk of coronary artery disease
Recent human genetic studies suggest that allelic variants of leukotriene pathway genes influence the risk of clinical and subclinical atherosclerosis.…
A near null variant of 12/15-LOX encoded by a novel SNP in ALOX15 and the risk of coronary artery disease
OBJECTIVE: Murine genetic models suggest that function of the 12/15-LOX enzyme promotes atherosclerosis. We tested the hypothesis that exonic and/or…
Congenital anomalies and early functional impairments in a prospective birth cohort: risk of schizophrenia-spectrum disorder in adulthood
BACKGROUND: Adversities operating over intrauterine life have been associated with risk of schizophrenia, but the biology of resultant developmental perturbation…
Endothelial nitric oxide synthase polymorphism (-786T->C) and increased risk of angiographic vasospasm after aneurysmal subarachnoid hemorrhage
BACKGROUND AND PURPOSE: Vasospasm after aneurysmal subarachnoid hemorrhage (SAH) remains a leading cause of death and disability after aneurysm rupture.…
Interleukin-6 and atrial fibrillation in patients with coronary artery disease: data from the Heart and Soul Study
BACKGROUND: Previous studies suggest that markers of inflammation are elevated in patients with atrial fibrillation (AF). However, because inflammation has…
Gene expression changes in children with autism
The objective of this study was to identify gene expression differences in blood differences in children with autism (AU) and…
Population stratification in a case-control study of brain arteriovenous malformation in Latinos
BACKGROUND: Genetic association studies conducted in admixed populations may be confounded by population stratification resulting in spurious associations. The purpose…
Brief report: plasma leptin levels are elevated in autism: association with early onset phenotype?
There is evidence of both immune dysregulation and autoimmune phenomena in children with autism spectrum disorders (ASD). We examined the…
Association of polymorphisms in platelet and hemostasis system genes with acute myocardial infarction
BACKGROUND: Genetic polymorphisms may affect the balance between coagulation and fibrinolysis and thereby affect individual vulnerability to acute myocardial infarction…
Matrix metalloproteinase circulating levels, genetic polymorphisms, and susceptibility to acute myocardial infarction among patients with coronary artery disease
OBJECTIVE: The aim of this study was to assess systematic differences between patients with acute myocardial infarction (MI) and patients…
Polymorphisms in hypoxia inducible factor 1 and the initial clinical presentation of coronary disease
BACKGROUND: Only some patients with coronary artery disease (CAD) develop acute myocardial infarction (MI), and emerging evidence suggests vulnerability to…
Circulating chemokines accurately identify individuals with clinically significant atherosclerotic heart disease
Serum inflammatory markers correlate with outcome and response to therapy in subjects with cardiovascular disease. However, current individual markers lack…
Recent genetic selection in the ancestral admixture of Puerto Ricans
Recent studies have used dense markers to examine the human genome in ancestrally homogeneous populations for hallmarks of selection. No…
Genetic ancestry, population sub-structure, and cardiovascular disease-related traits among African-American participants in the CARDIA Study
African-American populations are genetically admixed. Studies performed among unrelated individuals from ethnically admixed populations may be both vulnerable to confounding…
Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia
A GAG deletion in the DYT1 gene is a major cause of early-onset dystonia, but clinical disease expression occurs in…
Thymidylate synthase polymorphisms and colon cancer: associations with tumor stage, tumor characteristics and survival
Thymidylate synthase (TS) is a key enzyme in folate metabolism, a pathway that is important in colorectal carcinogenesis. We investigated…
The pharmacogenetics research network: from SNP discovery to clinical drug response
The NIH Pharmacogenetics Research Network (PGRN) is a collaborative group of investigators with a wide range of research interests, but…
Dietary intake of folate and co-factors in folate metabolism, MTHFR polymorphisms, and reduced rectal cancer
Little is known about the contribution of polymorphisms in the methylenetetrahydrofolate reductase gene (MTHFR) and the folate metabolism pathway in…
Infection in the first 2 years of life and autism spectrum disorders
OBJECTIVE: The purpose of this work was to investigate the association between infections in the first 2 years and subsequent…
Association of smoking, CpG island methylator phenotype, and V600E BRAF mutations in colon cancer
BACKGROUND: Cigarette smoking has been associated with microsatellite instability in sporadic colon cancer. Most microsatellite-unstable colon cancers have widespread methylation…
Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson’s disease: a large-scale international study
BACKGROUND: A genome-wide association study identified 13 single-nucleotide polymorphisms (SNPs) significantly associated with Parkinson's disease. Small-scale replication studies were largely…
The association of genetic polymorphisms in sex hormone biosynthesis and action with insulin sensitivity and diabetes mellitus in women at midlife
We evaluated associations of insulin sensitivity, metabolic syndrome, and diabetes mellitus with single nucleotide polymorphism (SNP) variants from sex hormone…
Twins of mistaken zygosity (TOMZ): evidence for genetic contributions to dietary patterns and physiologic traits
Twin designs, comparing correlations in monozygotic (MZ) versus dizygotic (DZ) twins, have an extensive history. One major confounder in such…
The CHARGE study: an epidemiologic investigation of genetic and environmental factors contributing to autism
Causes and contributing factors for autism are poorly understood. Evidence suggests that prevalence is rising, but the extent to which…
Apolipoprotein E epsilon 2 is associated with new hemorrhage risk in brain arteriovenous malformations
OBJECTIVE: Patients with brain arteriovenous malformation (AVM) are at life-threatening risk of intracranial hemorrhage (ICH). Identification of genetic variants associated…
Tumor necrosis factor-alpha-238G>A promoter polymorphism is associated with increased risk of new hemorrhage in the natural course of patients with brain arteriovenous malformations
BACKGROUND AND PURPOSE: Identification of single-nucleotide polymorphisms (SNPs) associated with increased risk of new intracranial hemorrhage (ICH) after brain arteriovenous…
A population-based study of tumor gene expression and risk of breast cancer death among lymph node-negative patients
INTRODUCTION: The Oncotype DX assay was recently reported to predict risk for distant recurrence among a clinical trial population of…
Do long-term HDL-C declines associated with a first birth vary by apo E phenotype? The Coronary Artery Risk Development in Young Adults (CARDIA) study
BACKGROUND: High-density lipoprotein cholesterol (HDL-C) levels in premenopausal and postmenopausal women are differentially affected by exogenous sex hormones depending on…
Polymorphisms within the C-reactive protein (CRP) promoter region are associated with plasma CRP levels
Elevated plasma levels of C-reactive protein (CRP), an inflammation-sensitive marker, have emerged as an important predictor of future cardiovascular disease…
Matrix Gla protein and osteopontin genetic associations with coronary artery calcification and bone density: the CARDIA study
A role for matrix proteins has previously been proposed in the pathogenesis of arterial calcification in the setting of atherosclerosis,…
Case-control single-marker and haplotypic association analysis of pedigree data
Related individuals collected for use in linkage studies may be used in case-control linkage disequilibrium analysis, provided one takes into…
Association of lipoprotein-associated phospholipase A2 mass and activity with calcified coronary plaque in young adults: the CARDIA study
OBJECTIVE: To examine the association of lipoprotein-associated phospholipase A2 (Lp-PLA2) mass and activity with calcified coronary plaque in young adults.…
Identifying environmental contributions to autism: provocative clues and false leads
The potential role of environmental factors in autism spectrum disorders (ASD) is an area of emerging interest within the public…
Comparison between prototype hybrid capture 3 and hybrid capture 2 human papillomavirus DNA assays for detection of high-grade cervical intraepithelial neoplasia and cancer
We compared the performance of a prototype version of the Hybrid Capture 3 (HC3) human papillomavirus (HPV) DNA assay to…
Natural variation in human membrane transporter genes reveals evolutionary and functional constraints
Membrane transporters maintain cellular and organismal homeostasis by importing nutrients and exporting toxic compounds. Transporters also play a crucial role…
Factor V Leiden and risk of ischemic stroke in nonvalvular atrial fibrillation: the AnTicoagulation and Risk Factors in Atrial Fibrillation (ATRIA) Study
BACKGROUND: Atrial fibrillation is a major cause of cardioembolic stroke. Since atrial and venous pressures are similar, genetic variants that…
On the twin risk in autism
Autism is considered by many to be the most strongly genetically influenced multifactorial childhood psychiatric disorder. In the absence of…
The epidemiology of mental retardation of unknown cause
OBJECTIVE: To describe selected infant and maternal characteristics for children with mild and severe mental retardation (MR) of unknown cause.…
Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation
There has been little exploration of major biologic regulators of cerebral development in autism. In archived neonatal blood of children…
Twin studies of disease heritability based on medical records: application to acne vulgaris
Establishment of the Kaiser-Permanente Twin Registry permitted the study of disease heritability in twins based on review of the twins'…
Diagnosis of twin zygosity by self-assessment and by genetic analysis
For 173 pairs of like-sex adult twins, self-assessment of zygosity was verified by laboratory diagnosis. Seventeen percent of twins who…
