DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Alcohol consumption. The EFO term alcohol drinking was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: alcohol drinking

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

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 Esko, 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, A Doering, J Scott, TD Spector, RJ Loos, DI Boomsma, V Mooser, L Peltonen, K Stefansson, CM van Duijn, P Vineis, WH Sommer, JS Kooner, R Spanagel, UA Heberlein, MR Jarvelin, P Elliott

TITLE:

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

JOURNAL:

Proceedings of the National Academy of Sciences of the United States of America Apr 2011, Vol 108, pp. 7119-24

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 × 10(-8) to P = 4 × 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. Down-regulation 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. PUBMED: 21471458
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