Gunter SchumannLachlan J. CoinAnbarasu LourdusamyPimphen CharoenKaren H. BergerDavid StaceySylvane DesrivièresFazil A. AlievAnokhi A. KhanNajaf AminYurii S. AulchenkoGeorgy BakalkinStephan J. BakkerBeverley BalkauJoline W. BeulensAinhoa BilbaoRudolf A. De BoerDelphine BeuryMichiel L. BotsElemi J. BreetveltStéphane CauchiChristine Cavalcanti-ProençaJohn C. ChambersToni Kim ClarkeNorbert DahmenEco J. De GeusDanielle DickFrancesca DucciAlanna EastonHoward J. EdenbergTõnu EskAlberto Fernández-MedardeTatiana ForoudNelson B. FreimerJean Antoine GiraultDiederick E. GrobbeeSimonetta GuarreraDaniel F. GudbjartssonAnna Liisa HartikainenAndrew C. HeathVictor HesselbrockAlbert HofmanJouke Jan HottengaMatti K. IsohanniJaakko KaprioKay Tee KhawBrigitte KuehnelJaana LaitinenStéphane LobbensJian'an LuanMassimo ManginoMatthieu MaroteauxGiuseppe MatulloMark I. McCarthyChristian MuellerGerjan NavisMattijs E. NumansAlejandro NúñezDale R. NyholtCharlotte N. Onland-MoretBen A. OostraPaul F. O'ReillyMiklos PalkovitsBrenda W. PenninxSilvia PolidoroAnneli PoutaInga ProkopenkoFulvio RicceriEugenio SantosJohannes H. SmitNicole SoranzoKijoung SongUlla SovioMichael StumvollIda SurakkThorgeir E. ThorgeirssonUnnur ThorsteinsdottirClaire TroakesThorarinn TyrfingssonAnke TönjesCuno S. UiterwaalAndre G. UitterlindenPim Van Der HarstYvonne T. Van Der SchouwKing's College LondonImperial College LondonMahidol UniversityNational Health ServiceErnest Gallo Clinic and Research CenterVirginia Commonwealth UniversityErasmus University Medical CenterUppsala UniversitetUniversity of Groningen, University Medical Center GroningenInsermUniversite Paris-Sud XIUniversity Medical Center UtrechtZentralinstitut fur Seelische GesundheitCNRS Centre National de la Recherche ScientifiqueJohannes Gutenberg Universitat MainzIndiana University-Purdue University IndianapolisUniversity of TartuEstonian BiocentreUniversidad de SalamancaJane & Terry Semel Institute for Neuroscience & Human BehaviorUniversite Pierre et Marie CurieInstitute for Scientific Interchange FoundationUniversity of IcelandOulun YliopistoWashington University in St. Louis, School of MedicineUniversity of ConnecticutVU University Medical CenterHelsingin YliopistoNational Institute for Health and WelfareInstitute for Molecular MedicineUniversity of CambridgeHelmholtz Center Munich German Research Center for Environmental HealthTyoterveyslaitosMedical Research CouncilUniversita degli Studi di TorinoUniversity of OxfordFriedrich-Alexander-Universität Erlangen-NürnbergQueensland Institute of Medical ResearchSemmelweis EgyetemInstitute for Research in Extramural Medicine - EMGOLeiden University Medical Center - LUMCWellcome Trust Centre for Human GeneticsWellcome Trust Sanger InstituteGlaxoSmithKlineUniversitat LeipzigVogur Samtök Áhugafólks um Áfengis Addiction Treatment CenterCentre Hospitalier Universitaire VaudoisLudwig-Maximilians-Universitat MunchenKlinikum der Universitat MunchenHammersmith HospitalHealth Protection Agency2018-05-032018-05-032011-04-26Proceedings of the National Academy of Sciences of the United States of America. Vol.108, No.17 (2011), 7119-712410916490002784242-s2.0-79955569025https://repository.li.mahidol.ac.th/handle/20.500.14594/12920Alcohol 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 prefrontal cortex samples (P = 0.026) and significant (P < 0.017) differences in expression of AUTS2 in whole-brain extracts of mice selected for differences in voluntary alcohol consumption. Downregulation of an AUTS2 homolog caused reduced alcohol sensitivity in Drosophila (P < 0.001). Our finding of a regulator of alcohol consumption adds knowledge to our understanding of genetic mechanisms influencing alcohol drinking behavior.Mahidol UniversityMultidisciplinaryGenome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumptionArticleSCOPUS10.1073/pnas.1017288108