Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption

G Schumann; LJ Coin; A Lourdusamy; P Charoen; KH Berger; D Stacey; S Desrivières; FA Aliev; AA Khan; N Amin; YS Aulchenko; G Bakalkin; SJ Bakker; B Balkau; JW Beulens; A Bilbao; RA De Boer; D Beury; ML Bots; EJ Breetvelt; S Cauchi; C Cavalcanti-Proença; JC Chambers; TK Clarke; N Dahmen; EJ De Geus; D Dick; F Ducci; A Easton; HJ Edenberg; T Esk; A Fernández-Medarde; T Foroud; NB Freimer; JA Girault; DE Grobbee; S Guarrera; DF Gudbjartsson; AL Hartikainen; AC Heath; V Hesselbrock; A Hofman; JJ Hottenga; MK Isohanni; J Kaprio; KT Khaw; B Kuehnel; J Laitinen; S Lobbens; J Luan; M Mangino; M Maroteaux; G Matullo; MI McCarthy; C Mueller; G Navis; ME Numans; A Núñez; DR Nyholt; CN Onland-Moret; BA Oostra; PF O'Reilly; M Palkovits; BW Penninx; S Polidoro; A Pouta; I Prokopenko; F Ricceri; E Santos; JH Smit; N Soranzo; K Song; U Sovio; M Stumvoll; I Surakk; TE Thorgeirsson; U Thorsteinsdottir; C Troakes; T Tyrfingsson; A Tönjes; CS Uiterwaal; AG Uitterlinden; P Van Der Harst; YT Van Der Schouw; O Staehlin; N Vogelzangs; P Vollenweider; G Waeber; NJ Wareham; DM Waterworth; JB Whitfield; EH Wichmann; G Willemsen; JC Witteman; X Yuan; G Zhai; JH Zhao; W Zhang; NG Martin; A Metspalu

Journal article

Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption

G Schumann, LJ Coin, A Lourdusamy, P Charoen, KH Berger, D Stacey, S Desrivières, FA Aliev, AA Khan, N Amin, YS Aulchenko, G Bakalkin, SJ Bakker, B Balkau, JW Beulens, A Bilbao, RA De Boer, D Beury, ML Bots, EJ Breetvelt Show all

Proceedings of the National Academy of Sciences of the United States of America | NATL ACAD SCIENCES | Published : 2011

DOI: 10.1073/pnas.1017288108

Abstract

Alcohol consumption is a moderately heritable trait, but the genetic basis in humans is largely unknown, despite its clinical and societal importance. We report a genome-wide association study meta-analysis of ∼2.5 million directly genotyped or imputed SNPs with alcohol consumption (gram per day per kilogram body weight) among 12 population-based samples of European ancestry, comprising 26,316 individuals, with replication genotyping in an additional 21,185 individuals. SNP rs6943555 in autism susceptibility candidate 2 gene (AUTS2) was associated with alcohol consumption at genome-wide significance (P = 4 x 10-8 to P = 4 x 10-9). We found a genotype-specific expression of AUTS2 in 96 human ..

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University of Melbourne Researchers

Lachlan Coin Author

Grants

Awarded by National Institute on Alcohol Abuse and Alcoholism

Funding Acknowledgements

We thank all of the individuals who participated and contributed to these studies. The Alcohol-GWAS (AlcGen) consortium was brought together as a component project of the European Union-funded European Network on Genomic and Genetic Epidemiology (ENGAGE) Program (HEALTH-F4-2007-201413). Functional genetic research was supported by the European Union-funded FP6 Integrated Project IMAGEN (Reinforcement-related behavior in normal brain function and psychopathology) (LSHM-CT-2007-037286) and FP7 project ADAMS (Genomic variations underlying common neuropsychiatric diseases and disease related cognitive traits in different human populations) (242257), as well as the United Kingdom National Institute for Health Research (NIHR) Biomedical Research Centre Mental Health, the Medical Research Council Programme Grant "Developmental pathways into adolescent substance abuse" (93558), the German Nationales Genomforschungsnetz (01GS08152), and the State of California for Medical Research through the University of California, San Francisco. L.J.C. is supported by a Research Council United Kingdom (RCUK) fellowship. P. C. was supported in part by a grant from the Imperial College Healthcare NHS Trust Comprehensive Biomedical Research Centre funded by NIHR. G. B. was supported by grants from the Swedish Council for Working Life and Social Research (FAS) and Swedish Science Research Council. E. S. was supported by grants from Instituto de Salud Carlos III (ISCIII) (FIS PI021570) and Junta de Castilla y Leon (JCyL) (SA044A08 and GR93) as well as institutional support from RTICC (RD06/0020/000), ISCIII, Spain. P. E. is an NIHR senior investigator. Acknowledgements for participating cohorts are in SI Text.