A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration
Author(s): Clark, Rosie; Choquet, Hélène; UK Biobank Eye and Vision Consortium,; et al.
EBioMedicine. 2023 May;91:104551. Epub 2023-04-11.
PubMed abstractGenetically Predicted Serum Vitamin C Levels and Cutaneous Squamous Cell Carcinoma Risk
Author(s): Kim, Yuhree; Yin, Jie; Le Breton, Stephen; Jorgenson, Eric; Huang, Hailiang; Choquet, Hélène; Asgari, Maryam M
J Invest Dermatol. 2023 Apr;143(4):664-667. Epub 2022-11-05.
PubMed abstractGenetic diversity fuels gene discovery for tobacco and alcohol use
Author(s): Saunders, Gretchen R B; Choquet, Hélène; Vrieze, Scott; et al.
Nature. 2022 Dec;612(7941):720-724. Epub 2022-12-07.
PubMed abstractAssociation Between Myopic Refractive Error and Primary Open-Angle Glaucoma: A 2-Sample Mendelian Randomization Study
Author(s): Choquet, Hélène; Khawaja, Anthony P; Jiang, Chen; Yin, Jie; Melles, Ronald B; Glymour, M Maria; Hysi, Pirro G; Jorgenson, Eric
JAMA Ophthalmol. 2022 Sep 01;140(9):864-871.
PubMed abstractAncestry- and sex-specific effects underlying inguinal hernia susceptibility identified in a multiethnic genome-wide association study meta-analysis
Author(s): Choquet, Hélène; Li, Weiyu; Yin, Jie; Bradley, Rachael; Hoffmann, Thomas J; Nandakumar, Priyanka; 23andMe Research Team,; Mostaedi, Rouzbeh; Tian, Chao; Ahituv, Nadav; Jorgenson, Eric
Hum Mol Genet. 2022 07 07;31(13):2279-2293.
PubMed abstractGWAS identifies two common loci associated with pigment dispersion syndrome/pigmentary glaucoma and implicate myopia in its development
Author(s): Simcoe, Mark J; Choquet, Hélène; Hammond, Christopher J; et al.
Ophthalmology. 2022 06;129(6):626-636. Epub 2022-01-11.
PubMed abstractGenome-wide association study of actinic keratosis identifies new susceptibility loci implicated in pigmentation and immune regulation pathways
Author(s): Kim, Yuhree; Yin, Jie; Huang, Hailiang; Jorgenson, Eric; Choquet, Hélène; Asgari, Maryam M
Commun Biol. 2022 Apr 21;5(1):386. Epub 2022-04-21.
PubMed abstractWhole genome sequence analysis of platelet traits in the NHLBI trans-omics for precision medicine initiative
Author(s): Little, Amarise; Correa, Adolfo; Raffield, Laura M; et al.
Hum Mol Genet. 2022 02 03;31(3):347-361.
PubMed abstractFull title: A large-scale transcriptome-wide association study (TWAS) of 10 blood cell phenotypes reveals complexities of TWAS fine-mapping
Author(s): Tapia, Amanda L; Choquet, Hélène; Raffield, Laura M; et al.
Genet Epidemiol. 2022 02;46(1):3-16. Epub 2021-11-15.
PubMed abstractWhole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program
Author(s): Mikhaylova, Anna V; Choquet, Hélène; Auer, Paul L; et al.
Am J Hum Genet. 2021 10 07;108(10):1836-1851. Epub 2021-09-27.
PubMed abstractGLIS1 regulates trabecular meshwork function and intraocular pressure and is associated with glaucoma in humans
Author(s): Nair, K Saidas; Choquet, H�l�ne; Jetten, Anton M; et al.
Nat Commun. 2021 08 12;12(1):4877. Epub 2021-08-12.
PubMed abstractNew and sex-specific migraine susceptibility loci identified from a multiethnic genome-wide meta-analysis
Author(s): Choquet, Hélène; Yin, Jie; Jacobson, Alice S; Horton, Brandon H; Hoffmann, Thomas J; Jorgenson, Eric; Avins, Andrew L; Pressman, Alice R
Commun Biol. 2021 07 22;4(1):864. Epub 2021-07-22.
PubMed abstractTranscriptome-Wide Association Study of Blood Cell Traits in African Ancestry and Hispanic/Latino Populations
Author(s): Wen, Jia; Fornage, Myriam; Li, Yun; et al.
Genes (Basel). 2021 07 08;12(7). Epub 2021-07-08.
PubMed abstractA large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects
Author(s): Choquet, Hélène; Jorgenson, Eric; et al.
Nat Commun. 2021 06 14;12(1):3595. Epub 2021-06-14.
PubMed abstractWhole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program
Author(s): Hu, Yao; Choquet, Hélène; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium,; et al.
Am J Hum Genet. 2021 05 06;108(5):874-893. Epub 2021-04-21.
PubMed abstractGenetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images
Author(s): Currant, Hannah; Choquet, Hélène; Khawaja, Anthony P; et al.
PLoS Genet. 2021 05;17(5):e1009497. Epub 2021-05-12.
PubMed abstractA multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus
Author(s): Hardcastle, Alison J; Choquet, Hélène; Hysi, Pirro G; et al.
Commun Biol. 2021 03 01;4(1):266. Epub 2021-03-01.
PubMed abstractGenome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
Author(s): Gharahkhani, Puya; Qassim, Ayub; Wiggs, Janey L; et al.
Nat Commun. 2021 02 24;12(1):1258. Epub 2021-02-24.
PubMed abstractCigarette smoking behaviors and the importance of ethnicity and genetic ancestry
Author(s): Choquet, Hélène; Yin, Jie; Jorgenson, Eric
Transl Psychiatry. 2021 02 11;11(1):120. Epub 2021-02-11.
PubMed abstractGenetic ancestry, skin pigmentation, and the risk of cutaneous squamous cell carcinoma in Hispanic/Latino and non-Hispanic white populations
Author(s): Jorgenson, Eric; Choquet, Hélène; Yin, Jie; Hoffmann, Thomas J; Banda, Yambazi; Kvale, Mark N; Risch, Neil; Schaefer, Catherine; Asgari, Maryam M
Commun Biol. 2020 12 14;3(1):765. Epub 2020-12-14.
PubMed abstractThe Polygenic and Monogenic Basis of Blood Traits and Diseases
Author(s): Vuckovic, Dragana; Danesh, John; Soranzo, Nicole; et al.
Cell. 2020 09 03;182(5):1214-1231.e11.
PubMed abstractTrans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations
Author(s): Chen, Ming-Huei; Choquet, Hélène; Lettre, Guillaume; et al.
Cell. 2020 09 03;182(5):1198-1213.e14.
PubMed abstractMeta-analysis of 26,638 Individuals Identifies Two Genetic Loci Associated with Left Ventricular Ejection Fraction
Author(s): Choquet H; Thai KK; Jiang C; Ranatunga DK; Hoffmann TJ; Go AS; Lindsay AC; Ehm MG; Waterworth DM; Risch N; Schaefer C
Circ Genom Precis Med. 2020 08;13(4):e002804. Epub 2020-06-30.
PubMed abstractA multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness
Author(s): Choquet H; Schaefer C; Risch N; Jorgenson E; et al.
Commun Biol. 2020 06 11;3(1):301. Epub 2020-06-11.
PubMed abstractGenetic and environmental factors underlying keratinocyte carcinoma risk
Author(s): Choquet H; Ashrafzadeh S; Kim Y; Asgari MM; Jorgenson E
JCI Insight. 2020 05 21;5(10). Epub 2020-05-21.
PubMed abstractMeta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia
Author(s): Hysi PG; Khawaja AP; Hammond CJ; et al.
Nat Genet. 2020 04;52(4):401-407. Epub 2020-03-30.
PubMed abstractFunctional validity, role, and implications of heavy alcohol consumption genetic loci
Author(s): Thompson A; Cook J; Choquet H; Jorgenson E; Yin J; Kinnunen T; Barclay J; Morris AP; Pirmohamed M
Sci Adv. 2020 Jan;6(3):eaay5034. Epub 2020-01-15.
PubMed abstractClinical implications of recent advances in primary open-angle glaucoma genetics
Author(s): Choquet H; Wiggs JL; Khawaja AP
Eye (Lond). 2020 01;34(1):29-39. Epub 2019-10-23.
PubMed abstractGenome-wide Genotyping of Cerebral Cavernous Malformation Type 1 Individuals to Identify Genetic Modifiers of Disease Severity
Author(s): Choquet H; Kim H
Methods Mol Biol. 2020;2152:77-84.
PubMed abstractUse 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
Author(s): Kowalski MH; Choquet H; Li Y; et al.
PLoS Genet. 2019 12;15(12):e1008500. Epub 2019-12-23.
PubMed abstractContribution of rare coding mutations in CD36 to type 2 diabetes and cardio-metabolic complications
Author(s): Meyre D; Choquet H; Linton KJ; et al.
Sci Rep. 2019 11 20;9(1):17123. Epub 2019-11-20.
PubMed abstractAssociation studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use
Author(s): Liu M; Choquet H; Weisner C; Vrieze S; et al.
Nat Genet. 2019 02;51(2):237-244. Epub 2019-01-14.
PubMed abstractA Large Multi-ethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci
Author(s): Hoffmann TJ; Choquet H; Yin J; Banda Y; Kvale MN; Glymour M; Schaefer C; Risch N; Jorgenson E
Genetics. 2018 10;210(2):499-515. Epub 2018-08-14.
PubMed abstractCommon mitochondrial haplogroups and cutaneous squamous cell carcinoma risk
Author(s): Jorgenson E; Choquet H; Yin J; Asgari MM
Cancer Epidemiol Biomarkers Prev. 2018 07;27(7):838-841. Epub 2018-04-25.
PubMed abstractA multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci
Author(s): Choquet H; Schaefer C; Risch N; Jorgenson E; et al.
Nat Commun. 2018 06 11;9(1):2278. Epub 2018-06-11.
PubMed abstractA large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure
Author(s): Choquet H; Thai KK; Yin J; Hoffmann TJ; Kvale MN; Banda Y; Schaefer C; Risch N; Nair KS; Melles R; Jorgenson E
Nat Commun. 2017 Dec 13;8(1):2108. Epub 2017-12-13.
PubMed abstractGenetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study
Author(s): Jorgenson E; Thai KK; Hoffmann TJ; Sakoda LC; Kvale MN; Banda Y; Schaefer C; Risch N; Mertens J; Weisner C; Choquet H
Mol Psychiatry. 2017 Sep;22(9):1359-1367. Epub 2017-05-09.
PubMed abstractCytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in Cerebral Cavernous Malformation type 1
Author(s): Choquet H; Trapani E; Goitre L; Trabalzini L; Akers A; Fontanella M; Hart BL; Morrison LA; Pawlikowska L; Kim H; Retta SF
Free Radic Biol Med. 2016 Mar;92:100-9. doi: 10.1016/j.freeradbiomed.2016.01.008. Epub 2016 Jan 19.
PubMed abstractGenetics of cerebral cavernous malformations: current status and future prospects
Author(s): Choquet H; Pawlikowska L; Lawton MT; Kim H.
J Neurosurg Sci. 2015 Sep;59(3):211-20. Epub 2015 Apr 22.
PubMed abstractAssociation of cardiovascular risk factors with disease severity in cerebral cavernous malformation type 1 subjects with the common Hispanic mutation
Author(s): Choquet H; Nelson J; Pawlikowska L; McCulloch CE; Akers A; Baca B; Khan Y; Hart B; Morrison L; Kim H.
Cerebrovasc Dis. 2014;37(1):57-63. doi: 10.1159/000356839. Epub 2013 Dec 21.
PubMed abstractPolymorphisms in inflammatory and immune response genes associated with cerebral cavernous malformation type 1 severity
Author(s): Choquet H; Pawlikowska L; Nelson J; McCulloch CE; Akers A; Baca B; Khan Y; Hart B; Morrison L; Kim H; Brain Vascular Malformation Consortium (BVMC) Study
Cerebrovasc Dis. 2014;38(6):433-40. doi: 10.1159/000369200. Epub 2014 Dec 3.
PubMed abstractExamination of rare missense variants in the CHRNA5-A3-B4 gene cluster to level of response to alcohol in the San Diego Sibling Pair study
Author(s): Choquet H; Joslyn G; Lee A; Kasberger J; Robertson M; Brush G; Schuckit MA; White R; Jorgenson E
Alcohol Clin Exp Res. 2013 Aug;37(8):1311-6. doi: 10.1111/acer.12099. Epub 2013 Mar 4.
PubMed abstractGenetic analysis of a population heavy drinking phenotype identifies risk variants in whites
Author(s): Hamidovic A; Goodloe RJ; Young TR; Styn MA; Mukamal KJ; Choquet H; Kasberger JL; Buxbaum SG; Papanicolaou GJ; White W; Volcik K; Spring B; Hitsman B; Levy D; Jorgenson E.;
J Clin Psychopharmacol. 2013 Apr;33(2):206-10. doi: 10.1097/JCP.0b013e318287009a.
PubMed abstractContribution of common PCSK1 genetic variants to obesity in 8,359 subjects from multi-ethnic American population
Author(s): Choquet H; Kasberger J; Hamidovic A; Jorgenson E
PLoS One. 2013;8(2):e57857. doi: 10.1371/journal.pone.0057857. Epub 2013 Feb 25.
PubMed abstractGene-centric analysis of serum cotinine levels in African and European American populations
Author(s): Hamidovic A; Goodloe RJ; Bergen AW; Benowitz NL; Styn MA; Kasberger JL; Choquet H; Young TR; Meng Y; Palmer C; Pletcher M; Kertesz S; Hitsman B; Spring B; Jorgenson E
Neuropsychopharmacology. 2012 Mar;37(4):968-74. doi: 10.1038/npp.2011.280. Epub 2011 Nov 16.
PubMed abstractDysfunction of lipid sensor GPR120 leads to obesity in both mouse and human
Author(s): Ichimura A; Hirasawa A; Poulain-Godefroy O; Bonnefond A; Hara T; Yengo L; Kimura I; Leloire A; Liu N; Iida K; Choquet H; Besnard P; Lecoeur C; Vivequin S; Ayukawa K; Takeuchi M; Ozawa K; Tauber M; Maffeis C; Morandi A; Buzzetti R; Elliott P; Pouta A; Jarvelin MR; Körner A; Kiess W; Pigeyre M; Caiazzo R; Van Hul W; Van Gaal L; Horber F; Balkau B; Lévy-Marchal C; Rouskas K; Kouvatsi A; Hebebrand J; Hinney A; Scherag A; Pattou F; Meyre D; Koshimizu TA; Wolowczuk I; Tsujimoto G; Froguel P
Nature. 2012 Feb 19;483(7389):350-4. doi: 10.1038/nature10798.
PubMed abstractHeterozygous mutations causing partial prohormone convertase 1 deficiency contribute to human obesity
Author(s): Creemers JW; Choquet H; Stijnen P; Vatin V; Pigeyre M; Beckers S; Meulemans S; Than ME; Yengo L; Tauber M; Balkau B; Elliott P; Jarvelin MR; Van Hul W; Van Gaal L; Horber F; Pattou F; Froguel P; Meyre D
Diabetes. 2012 Feb;61(2):383-90. doi: 10.2337/db11-0305. Epub 2011 Dec 30.
PubMed abstract