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Helene Choquet, PhD

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Kaiser Permanente Division of Research
2000 Broadway
Oakland, CA 94612

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


 
Hélène Choquet, PhD, has been a staff scientist at the Kaiser Permanente Northern California Division of Research since 2016. Her research interests are in human genetics, with a focus on identifying genetic factors which influence complex diseases and their treatments. Dr. Choquet received doctoral training in human genetics at the Lille 2 University of Health and Law in France, and postdoctoral training at the University of California, San Francisco (UCSF). During her postdoctoral research fellowship at UCSF, she was the principal investigator of an American Heart Association award.

Current Position(s):

  • Staff Scientist, Division of Research, Kaiser Permanente Northern California

Section Affiliations:

Primary Research Interests:

  • Genetic epidemiology and pharmacogenomics
  • Genetic factors influencing alcohol, and tobacco use
  • Genetics of vision disorders including refractive error, 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

Related Website(s):

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

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

Author(s): Choquet H; Thai KK; Hoffmann TJ; Yin J; Schaefer C; Risch N; Jorgenson E; et al.

Nat Commun. 2018 Jun 11;9(1):2278. Epub 2018-06-11.

PubMed abstract

A 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 abstract

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

Author(s): Liu M; 23andMe Research Team; HUNT All-In Psychiatry; Choquet H; Zhao W; Thai KK; Weisner C; Yin J; Jorgenson E; Vrieze S; et al.

Nature genetics. 2019 Feb ;51(2):237-244. Epub 2019-01-14.

PubMed abstract

A 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 Aug 14.

PubMed abstract

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

Author(s): Choquet H; Thai KK; Hoffmann TJ; Yin J; Schaefer C; Risch N; Jorgenson E; et al.

Nat Commun. 2018 Jun 11;9(1):2278. Epub 2018-06-11.

PubMed abstract

Common mitochondrial haplogroups and cutaneous squamous cell carcinoma risk

Author(s): Jorgenson E; Choquet H; Yin J; Asgari M

Cancer Epidemiol Biomarkers Prev. 2018 Apr 25.

PubMed abstract

A 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 abstract

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

Author(s): Jorgenson, E E; Thai, K K KK; Hoffmann, T J TJ; Sakoda, L C LC; Kvale, M N MN; Banda, Y Y; Schaefer, C C; Risch, N N; Mertens, J J; Weisner, C C; Choquet, H H

Molecular psychiatry. 2017 Sep ;22(9):1359-1367. Epub 2017-05-09.

PubMed abstract

Cytochrome 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 abstract

Genetics 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 abstract

Association 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 abstract

Polymorphisms 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 abstract

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

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 abstract

​Genetic 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 abstract

Contribution 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 abstract

Gene-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 abstract

Dysfunction 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 abstract

Heterozygous 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