Evidence map›Paper›PMID 21471458›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2011

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

Gunter Schumann, Lachlan J Coin, Anbarasu Lourdusamy, Pimphen Charoen, Karen H Berger, David Stacey, Sylvane Desrivières, Fazil A Aliev, Anokhi A Khan, Najaf Amin and 107 more

Erratum issuedOpen access · greenAbstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 163 papers, 11 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
163citing papers in PubMed, 11 pooled it
13.6field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

163 citing papers in PubMed, 11 syntheses or guidelines pooled it, 270 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Genome-wide meta-analysis of alcohol use disorder in East Asians.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2022
    Pooled it
  4. Pooled it
  5. Meta-Analysis of Genetic Influences on Initial Alcohol Sensitivity.Alcoholism, clinical and experimental research · 2018
    Pooled it
  6. KLB is associated with alcohol drinking, and its gene product β-Klotho is necessary for FGF21 regulation of alcohol preference.Proceedings of the National Academy of Sciences of the United States of America · 2016
    Pooled it
  7. Genome-Wide Meta-Analysis of Longitudinal Alcohol Consumption Across Youth and Early Adulthood.Twin research and human genetics : the official journal of the International Society for Twin Studies · 2015
    Pooled it
  8. Pooled it
  9. Pooled it
  10. Pooled it
  11. Pooled it
  12. Trial
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. The Stage-Based Model of Addiction-UsingInternational journal of molecular sciences · 2023
    Review

103 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

117 authors at 20 institutions in 15 countries.

Gunter SchumannMedical Research Council-Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College, London SE5 8AF, United Kingdom. gunter.schumann@kcl.ac.uk
Lachlan J Coin
Anbarasu Lourdusamy
Pimphen Charoen
Karen H Berger
David Stacey
Sylvane Desrivières
Fazil A Aliev
Anokhi A Khan
Najaf Amin
Yurii S Aulchenko
Georgy Bakalkin
Stephan J Bakker
Beverley Balkau
Joline W Beulens
Ainhoa Bilbao
Rudolf A de Boer
Delphine Beury
Michiel L Bots
Elemi J Breetvelt
Stéphane Cauchi
Christine Cavalcanti-Proença
John C Chambers
Toni-Kim Clarke
Norbert Dahmen
Eco J de Geus
Danielle Dick
Francesca Ducci
Alanna Easton
Howard J Edenberg
Tõnu Esko
Tõnu Esk
Alberto Fernández-Medarde
Tatiana Foroud
Nelson B Freimer
Jean-Antoine Girault
Diederick E Grobbee
Simonetta Guarrera
Daniel F Gudbjartsson
Anna-Liisa Hartikainen
Andrew C Heath
Victor Hesselbrock
Albert Hofman
Jouke-Jan Hottenga
Matti K Isohanni
Jaakko Kaprio
Kay-Tee Khaw
Brigitte Kuehnel
Jaana Laitinen
Stéphane Lobbens
Jian'an Luan
Massimo Mangino
Matthieu Maroteaux
Giuseppe Matullo
Mark I McCarthy
Christian Mueller
Gerjan Navis
Mattijs E Numans
Alejandro Núñez
Dale R Nyholt
Charlotte N Onland-Moret
Ben A Oostra
Paul F O'Reilly
Miklos Palkovits
Brenda W Penninx
Silvia Polidoro
Anneli Pouta
Inga Prokopenko
Fulvio Ricceri
Eugenio Santos
Johannes H Smit
Nicole Soranzo
Kijoung Song
Ulla Sovio
Michael Stumvoll
Ida Surakk
Thorgeir E Thorgeirsson
Unnur Thorsteinsdottir
Claire Troakes
Thorarinn Tyrfingsson
Anke Tönjes
Cuno S Uiterwaal
Andre G Uitterlinden
Pim van der Harst
Yvonne T van der Schouw
Oliver Staehlin
Nicole Vogelzangs
Peter Vollenweider
Gerard Waeber
Nicholas J Wareham
Dawn M Waterworth
John B Whitfield
Erich H Wichmann
Gonneke Willemsen
Jacqueline C Witteman
Xin Yuan
Guangju Zhai
Jing H Zhao
Weihua Zhang
Nicholas G Martin
Andres Metspalu
Angela Doering
James Scott
Tim D Spector
Ruth J Loos
Dorret I Boomsma
Vincent Mooser
Leena Peltonen
Kari Stefansson
Cornelia M van Duijn
Paolo Vineis
Wolfgang H Sommer
Jaspal S Kooner
Rainer Spanagel
Ulrike A Heberlein
Marjo-Riitta Jarvelin
Paul Elliott
King's College London · GBImperial College London · GBUniversity Medical Center Utrecht · NLCentral Institute of Mental Health · DEInstitute for Scientific Interchange · ITUniversity Medical Center Groningen · NLdeCODE Genetics (Iceland) · ISGlaxoSmithKline (United States) · USInstitut de Biologie de Lille · FRMRC Epidemiology Unit · GBConsejo Superior de Investigaciones Científicas · ESHelmholtz Zentrum München · DEIndiana University – Purdue University Indianapolis · USQIMR Berghofer Medical Research Institute · AUVrije Universiteit Amsterdam · NLAmsterdam Public Health · NLErasmus MC · NLErnest Gallo Clinic and Research Center · USEstonian Biocentre · EEFinnish Institute for Health and Welfare · FI

Funding

GENE-ENVIRONMENT INTERPLAY IN ALCOHOLISMK05AA017688 · NIAAA · WASHINGTON UNIVERSITY · PI HEATH, ANDREW C. · 2008 to 2017
$1.9M
Twin, molecular, and developmental approaches to understanding alcohol misuseK02AA018755 · NIAAA · VIRGINIA COMMONWEALTH UNIVERSITY · PI DICK, DANIELLE M · 2010 to 2019
$1.3M
Medical Research Council G0401527Medical Research Council G0600676Medical Research Council G0601966Medical Research Council G0700931Medical Research Council G0701863Medical Research Council G0801056Medical Research Council G0901858Medical Research Council G1000143Medical Research Council MC_U106179471Medical Research Council MC_U106188470NIAAA NIH HHS K02 AA018755NIAAA NIH HHS K05 AA017688Wellcome Trust 090532
6 · The paper itself

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.

Indexed as

Polymorphism, Single NucleotideQuantitative Trait, HeritableAlcohol DrinkingAnimalsCytoskeletal ProteinsDrosophila melanogasterFemaleGene Expression RegulationGenome-Wide Association StudyGenotypeHumansMaleMiceNuclear ProteinsProteinsTranscription FactorsAUTS2 protein, humanAuts2 protein, mouseCytoskeletal ProteinsNuclear ProteinsProteinsTranscription Factors

Identifiers

PMID21471458
PMCPMC3084048
OpenAlexW2002212507

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.