List of works - Hélène Choquet

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

article

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

scientific article published on 13 December 2017

A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects

scientific article published on 14 June 2021

A large-scale transcriptome-wide association study (TWAS) of ten blood cell phenotypes reveals complexities of TWAS fine-mapping

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

A multiethnic GWAS meta-analysis of 585,243 individuals identifies new risk loci associated with cataract and reveals sex-specific effects

scholarly article

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

scientific article published on 11 June 2020

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

scientific article

Analysis of novel risk loci for type 2 diabetes in a general French population: the D.E.S.I.R. study

scientific article

Ancestry- and sex-specific effects underlying inguinal hernia susceptibility identified in a multiethnic genome-wide association study meta-analysis

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

scientific article published on 21 December 2013

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

scientific article published on 14 January 2019

Cigarette smoking behaviors and the importance of ethnicity and genetic ancestry

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

scientific article published on 23 October 2019

Common mitochondrial haplogroups and cutaneous squamous cell carcinoma risk

scientific article published on 25 April 2018

Common nonsynonymous variants in PCSK1 confer risk of obesity

article

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

scientific article

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

scientific article published on 20 November 2019

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

scientific article published on 18 January 2016

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

scientific journal article

Effects of TCF7L2 polymorphisms on obesity in European populations

scientific article published on February 2008

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

scientific article published on 4 March 2013

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

scientific article published on 15 January 2020

GLIS1 regulates trabecular meshwork function and intraocular pressure and is associated with glaucoma in humans

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

scientific article published on 16 November 2011

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

scientific article

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

scientific article published on 14 December 2020

Genetic and environmental factors underlying keratinocyte carcinoma risk

scientific article published on 21 May 2020

Genetic and functional characterization of PCSK1.

scientific article published in January 2011

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

scientific article published on 9 May 2017

Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images

Genetically Predicted Serum Vitamin C Levels and Cutaneous Squamous Cell Carcinoma Risk

Genetics of Obesity: What have we Learned?

scientific article

Genetics of cerebral cavernous malformations: current status and future prospects

scientific article published on 22 April 2015

Genome-Wide Association Study Identifies Two Common Loci Associated with Pigment Dispersion Syndrome/Pigmentary Glaucoma and Implicates Myopia in its Development

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

scientific article published on 01 January 2020

Genome-wide association study of actinic keratosis identifies new susceptibility loci implicated in pigmentation and immune regulation pathways

Genomic insights into early-onset obesity

scientific article

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

scientific article published on 30 December 2011

Lack of Association of CD36 SNPs With Early Onset Obesity: A Meta-Analysis in 9,973 European Subjects

article

Meta-analysis and functional effects of the SLC30A8 rs13266634 polymorphism on isolated human pancreatic islets

scientific article

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

scientific article published on 30 June 2020

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

scientific article published on 30 March 2020

Molecular basis of obesity: current status and future prospects

scientific article

Multi-ancestry GWAS of Fuchs corneal dystrophy highlights roles of laminins, collagen, and endothelial cell regulation

New and sex-specific migraine susceptibility loci identified from a multiethnic genome-wide meta-analysis

scholarly article

No major contribution of TCF7L2 sequence variants to maturity onset of diabetes of the young (MODY) or neonatal diabetes mellitus in French white subjects

article

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

scientific article

Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value

scientific article published in 2008

Prevalence of loss-of-function FTO mutations in lean and obese individuals

scientific article

TCF7L2 is associated with type 2 diabetes in nonobese individuals from Tunisia

scientific article

TCF7L2 is reproducibly associated with type 2 diabetes in various ethnic groups: a global meta-analysis

scientific article published on 3 May 2007

TCF7L2 rs7903146 variant does not associate with smallness for gestational age in the French population

scientific article

TCF7L2 variation predicts hyperglycemia incidence in a French general population: the data from an epidemiological study on the Insulin Resistance Syndrome (DESIR) study

scientific article

The Polygenic and Monogenic Basis of Blood Traits and Diseases

scientific article published on 01 September 2020

The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects

scientific article published on 18 April 2009

The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies

scientific article

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

scientific article published on 01 September 2020

Transcription Factor TCF7L2 Genetic Study in the French Population: Expression in Human -Cells and Adipose Tissue and Strong Association With Type 2 Diabetes

article

Transcriptome-Wide Association Study of Blood Cell Traits in African Ancestry and Hispanic/Latino Populations

scientific article published in 2021

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

scientific article published on 23 December 2019

List of works by Hélène Choquet

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

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

A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects

A large-scale transcriptome-wide association study (TWAS) of ten blood cell phenotypes reveals complexities of TWAS fine-mapping

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

A multiethnic GWAS meta-analysis of 585,243 individuals identifies new risk loci associated with cataract and reveals sex-specific effects

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

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

Analysis of novel risk loci for type 2 diabetes in a general French population: the D.E.S.I.R. study

Ancestry- and sex-specific effects underlying inguinal hernia susceptibility identified in a multiethnic genome-wide association study meta-analysis

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

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

Cigarette smoking behaviors and the importance of ethnicity and genetic ancestry

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

Common mitochondrial haplogroups and cutaneous squamous cell carcinoma risk

Common nonsynonymous variants in PCSK1 confer risk of obesity

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

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

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

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

Effects of TCF7L2 polymorphisms on obesity in European populations

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

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

GLIS1 regulates trabecular meshwork function and intraocular pressure and is associated with glaucoma in humans

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

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

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

Genetic and environmental factors underlying keratinocyte carcinoma risk

Genetic and functional characterization of PCSK1.

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

Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images

Genetically Predicted Serum Vitamin C Levels and Cutaneous Squamous Cell Carcinoma Risk

Genetics of Obesity: What have we Learned?

Genetics of cerebral cavernous malformations: current status and future prospects

Genome-Wide Association Study Identifies Two Common Loci Associated with Pigment Dispersion Syndrome/Pigmentary Glaucoma and Implicates Myopia in its Development

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

Genome-wide association study of actinic keratosis identifies new susceptibility loci implicated in pigmentation and immune regulation pathways

Genomic insights into early-onset obesity

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

Lack of Association of CD36 SNPs With Early Onset Obesity: A Meta-Analysis in 9,973 European Subjects

Meta-analysis and functional effects of the SLC30A8 rs13266634 polymorphism on isolated human pancreatic islets

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

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

Molecular basis of obesity: current status and future prospects

Multi-ancestry GWAS of Fuchs corneal dystrophy highlights roles of laminins, collagen, and endothelial cell regulation

New and sex-specific migraine susceptibility loci identified from a multiethnic genome-wide meta-analysis

No major contribution of TCF7L2 sequence variants to maturity onset of diabetes of the young (MODY) or neonatal diabetes mellitus in French white subjects

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

Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value

Prevalence of loss-of-function FTO mutations in lean and obese individuals

TCF7L2 is associated with type 2 diabetes in nonobese individuals from Tunisia

TCF7L2 is reproducibly associated with type 2 diabetes in various ethnic groups: a global meta-analysis

TCF7L2 rs7903146 variant does not associate with smallness for gestational age in the French population

TCF7L2 variation predicts hyperglycemia incidence in a French general population: the data from an epidemiological study on the Insulin Resistance Syndrome (DESIR) study

The Polygenic and Monogenic Basis of Blood Traits and Diseases

The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects

The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies

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

Transcription Factor TCF7L2 Genetic Study in the French Population: Expression in Human -Cells and Adipose Tissue and Strong Association With Type 2 Diabetes

Transcriptome-Wide Association Study of Blood Cell Traits in African Ancestry and Hispanic/Latino Populations

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

Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program