Hélène Choquet, PhD

People

Kaiser Permanente Division of Research
2000 Broadway
Oakland, CA 94612

(510) 891-5972 (phone)
helene.choquet@kp.org

Hélène Choquet, PhD, is a Research Scientist I at the Kaiser Permanente Northern California Division of Research. Her research interests are in human genetics and genomics, with a focus on identifying genetic factors which influence complex traits, diseases and their treatments. Dr. Choquet received doctoral training in Human Genetics from the Lille 2 University of Health and Law in France. Prior to joining the faculty at the Division of Research, she was a Postdoctoral Research Fellow at the University of California, San Francisco (UCSF), where she received training in genetic epidemiology and statistical genetics and where she was a recipient of an American Heart Association award.

Dr. Choquet has broad expertise in Human Genetics, having worked on diverse complex traits and disorders, including obesity, alcohol and tobacco use, and brain vascular malformation. Dr. Choquet's research interests currently focus on the genetics of eye diseases, and the genetic factors underlying nonmelanoma skin cancers and other skin conditions. She is also interested in understanding the genetic mechanisms that drive the development of abdominal hernias.

Current Position(s):

Research Scientist I, Division of Research, Kaiser Permanente Northern California

Section Affiliations:

Behavioral Health and Aging

Primary Research Interests:

Genetic epidemiology and pharmacogenomics
Genetic factors influencing alcohol, and tobacco use
Genetics of vision disorders including myopia, refractive error, cataract, glaucoma, intraocular pressure, and response to treatments
Genetic determinants of metabolic diseases, including obesity and type 2 diabetes
Genetic epidemiology of cerebrovascular diseases
Genetics of hernia susceptibility
Genetic disparities among race/ethnicity in disease risk and treatment outcomes
Genetic epidemioilogy of nonmelanoma skin cancers

Related Website(s):

Research Program on Genes, Environment and Health

Studies

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 skin usually in areas where skin rubs together such as in the armpits, groin, buttocks and under breasts. The overall scientific objective of this study is to identify and validate genetic factors associated with the risk of hidradenitis suppurativa, with the long-term goal of uncovering new therapeutic targets.
Investigator: Choquet, Helene
Funder: National Institute of Arthritis and Musculoskeletal and Skin Diseases

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 has three major aims: 1) to investigate the shared and individual genetic risks of different types of abdominal hernia, 2) to examine the genetic risk factors underlying recurrence of hernias in individual patients, and 3) to investigate the genetic pathways and biological mechanisms through which abdominal hernia risk loci act.
Investigator: Choquet, Helene; Jorgenson, Eric
Funder: National Institute of Diabetes and Digestive and Kidney Diseases

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 direct effects or shared etiology, or both, by conducting a series of genetic analyses of the two conditions; and 2) Determine the contribution of refractive error (myopia) and relevant biological pathways in the development of glaucomatous neurodegeneration.
Investigator: Choquet, Helene; Jorgenson, Eric
Funder: National Eye Institute

Highlighted Publications

Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia

Author(s): Hysi PG†; Choquet H†; Consortium for Refractive Error and Myopia; UK Eye and Vision Consortium; 23andMe Inc.; Jorgenson E; Hammond CJ; et al.
† These authors jointly led this work.

Nat Genet. 2020 Apr;52(4):401-407. Epub 2020-03-30.

Current Position(s):

Section Affiliations:

Primary Research Interests:

Related Website(s):

Studies

Identification of genetic loci and pathways underlying hidradenitis suppurativa risk

Genetic Etiology of Abdominal Hernia Susceptibility

The Role of Refractive Error in the Etiology of Glaucoma

Highlighted Publications

Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia

A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci

A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure

Publications

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Cigarette smoking behaviors and the importance of ethnicity and genetic ancestry

Genetic ancestry, skin pigmentation, and the risk of cutaneous squamous cell carcinoma in Hispanic/Latino and non-Hispanic white populations

The Polygenic and Monogenic Basis of Blood Traits and Diseases

Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations

Meta-analysis of 26,638 Individuals Identifies Two Genetic Loci Associated with Left Ventricular Ejection Fraction

Genome-wide Genotyping of Cerebral Cavernous Malformation Type 1 Individuals to Identify Genetic Modifiers of Disease Severity

A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness

Genetic and environmental factors underlying keratinocyte carcinoma risk

Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia

Functional validity, role, and implications of heavy alcohol consumption genetic loci

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

Contribution of rare coding mutations in CD36 to type 2 diabetes and cardio-metabolic complications

Clinical implications of recent advances in primary open-angle glaucoma genetics

Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use.

A Large Multi-ethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci

A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci

Common mitochondrial haplogroups and cutaneous squamous cell carcinoma risk

A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure

Genetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study

Cytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in Cerebral Cavernous Malformation type 1

Genetics of cerebral cavernous malformations: current status and future prospects

Association of cardiovascular risk factors with disease severity in cerebral cavernous malformation type 1 subjects with the common Hispanic mutation

Polymorphisms in inflammatory and immune response genes associated with cerebral cavernous malformation type 1 severity

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

​Genetic analysis of a population heavy drinking phenotype identifies risk variants in whites

Contribution of common PCSK1 genetic variants to obesity in 8,359 subjects from multi-ethnic American population

Gene-centric analysis of serum cotinine levels in African and European American populations

Dysfunction of lipid sensor GPR120 leads to obesity in both mouse and human

Heterozygous mutations causing partial prohormone convertase 1 deficiency contribute to human obesity

Genetic analysis of a population heavy drinking phenotype identifies risk variants in whites