Evidence map›Paper›PMID 24166409›Full record

ArticleMolecular psychiatry2014

Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci.

J Gelernter, H R Kranzler, R Sherva, L Almasy, R Koesterer, A H Smith, R Anton, U W Preuss, M Ridinger, D Rujescu and 4 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular psychiatry, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 261 papers, 19 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
261citing papers in PubMed, 19 pooled it
24.6field-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

261 citing papers in PubMed, 19 syntheses or guidelines pooled it, 391 citations in OpenAlex.

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  7. Genome-wide meta-analysis of alcohol use disorder in East Asians.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2022
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  20. Trial

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

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors at 8 institutions in 2 countries.

J Gelernter1] Division of Human Genetics, Department of Psychiatry, Yale University School of Medicine; and VA CT Healthcare Center, West Haven, CT, USA [2] Departments of Genetics and Neurobiology, Yale University School of Medicine, West Haven, CT, USA.
H R KranzlerDepartment of Psychiatry, Philadelphia VA Medical Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
R ShervaDepartment of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA.
L AlmasyDepartment of Genetics, Texas Biomedical Research Institute, San Antonio, TX, USA.
R KoestererDepartment of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA.
A H SmithDivision of Human Genetics, Department of Psychiatry, Yale University School of Medicine; and VA CT Healthcare Center, West Haven, CT, USA.
R AntonDepartment of Psychiatry, Medical University of South Carolina, Charleston, SC, USA.
U W PreussDepartments of Psychiatry, Psychotherapy and Psychosomatics, Martin-Luther-University, Halle, Germany.
M RidingerDepartment of Psychiatry, Psychosomatics and Psychotherapy, University Medical Center, Regensburg, Germany.
D RujescuDepartments of Psychiatry, Psychotherapy and Psychosomatics, Martin-Luther-University, Halle, Germany.
N WodarzDepartment of Psychiatry, Psychosomatics and Psychotherapy, University Medical Center, Regensburg, Germany.
P ZillDepartment of Psychiatry and Psychotherapy, Ludwig-Maximilians University, Munich, Germany.
H Zhao1] Department of Biostatistics, Yale School of Public Health, West Haven, CT, USA [2] Department of Genetics, Yale University School of Medicine, West Haven, CT, USA.
L A Farrer1] Department of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA [2] Departments of Neurology, Ophthalmology, Genetics & Genomics, Epidemiology and Biostatistics, Boston University Schools of Medicine and Public Health, Boston, MA, USA.
Boston University · USMartin Luther University Halle-Wittenberg · DEYale University · USConnecticut Health Foundation · USLudwig-Maximilians-Universität München · DEMedical University of South Carolina · USTexas Biomedical Research Institute · USUniversity of Pennsylvania · US

Funding

Subject CollectionU10AA008401 · NIAAA · SUNY DOWNSTATE MEDICAL CENTER · PI JESSICA E SALVATORE · 1989 to 2026
$162.7M
MEDICAL SCIENTIST TRAINING PROGRAMT32GM007205 · NIGMS · YALE UNIVERSITY · PI KAZMIERCZAK, BARBARA I · 1985 to 2019
$42.9M
JH/CIDR Genotyping for Genome-Wide Association StudiesU01HG004438 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2007 to 2011
$24.2M
The Collaborative Genetic Study of Nicotine DependenceP01CA089392 · NCI · WASHINGTON UNIVERSITY · PI BIERUT, LAURA J. · 2001 to 2012
$17.3M
Sex-specific analysis of opioid dependence GWAS and beyondR01DA012690 · NIDA · YALE UNIVERSITY · PI GELERNTER, JOEL · 2000 to 2017
$14.0M
GENETICS OF COCAINE DEPENDENCER01DA012849 · NIDA · YALE UNIVERSITY · PI GELERNTER, JOEL · 1999 to 2010
$11.5M
Genome Wide Association Coordinating CenterU01HG004446 · NHGRI · UNIVERSITY OF WASHINGTON · PI WEIR, BRUCE S. · 2007 to 2011
$6.6M
Linkage Disequilibrium Studies of Alcohol DependenceR01AA011330 · NIAAA · YALE UNIVERSITY · PI GELERNTER, JOEL · 1997 to 2013
$6.4M
Genomewide Association Study of Cocaine Dependence in two PopulationsRC2DA028909 · NIDA · YALE UNIVERSITY · PI GELERNTER, JOEL · 2009 to 2010
$4.2M
Genetics of Cocaine DependenceR01DA018432 · NIDA · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI KRANZLER, HENRY RICHARD · 2006 to 2010
$3.5M
Genetics of Alcohol Dependence in African-AmericansR01AA017535 · NIAAA · YALE UNIVERSITY · PI GELERNTER, JOEL · 2009 to 2013
$3.0M
FAMILY STUDY OF COCAINE DEPENDENCER01DA013423 · NIDA · WASHINGTON UNIVERSITY · PI BIERUT, LAURA JEAN · 2000 to 2004
$2.2M
NCI NIH HHS P01 CA089392NHGRI NIH HHS N01 HG065403NHGRI NIH HHS U01 HG004422NHGRI NIH HHS U01 HG004438NHGRI NIH HHS U01HG004438NHGRI NIH HHS U01 HG004446NIAAA NIH HHS K05 AA017435NIAAA NIH HHS K24 AA013736NIAAA NIH HHS R01 AA011330NIAAA NIH HHS R01 AA017535NIAAA NIH HHS R01 AA11330NIAAA NIH HHS U10 AA008401NIDA NIH HHS R01 DA012690NIDA NIH HHS R01 DA012849NIDA NIH HHS R01 DA013423NIDA NIH HHS R01 DA018432NIDA NIH HHS R01 DA12690NIDA NIH HHS R01 DA12849NIDA NIH HHS R01 DA18432NIDA NIH HHS RC2 DA028909NIGMS NIH HHS T32 GM007205
6 · The paper itself

Abstract

We report a GWAS of alcohol dependence (AD) in European-American (EA) and African-American (AA) populations, with replication in independent samples of EAs, AAs and Germans. Our sample for discovery and replication was 16 087 subjects, the largest sample for AD GWAS to date. Numerous genome-wide significant (GWS) associations were identified, many novel. Most associations were population specific, but in several cases were GWS in EAs and AAs for different SNPs at the same locus,showing biological convergence across populations. We confirmed well-known risk loci mapped to alcohol-metabolizing enzyme genes, notably ADH1B (EAs: Arg48His, P=1.17 × 10(-31); AAs: Arg369Cys, P=6.33 × 10(-17)) and ADH1C in AAs (Thr151Thr, P=4.94 × 10(-10)), and identified novel risk loci mapping to the ADH gene cluster on chromosome 4 and extending centromerically beyond it to include GWS associations at LOC100507053 in AAs (P=2.63 × 10(-11)), PDLIM5 in EAs (P=2.01 × 10(-8)), and METAP in AAs (P=3.35 × 10(-8)). We also identified a novel GWS association (1.17 × 10(-10)) mapped to chromosome 2 at rs1437396, between MTIF2 and CCDC88A, across all of the EA and AA cohorts, with supportive gene expression evidence, and population-specific GWS for markers on chromosomes 5, 9 and 19. Several of the novel associations implicate direct involvement of, or interaction with, genes previously identified as schizophrenia risk loci. Confirmation of known AD risk loci supports the overall validity of the study; the novel loci are worthy of genetic and biological follow-up. The findings support a convergence of risk genes (but not necessarily risk alleles) between populations, and, to a lesser extent, between psychiatric traits.

Indexed as

Genome-Wide Association StudyAdaptor Proteins, Signal TransducingAlcohol DehydrogenaseAlcoholismAminopeptidasesBlack or African AmericanChromosome MappingCohort StudiesEukaryotic Initiation FactorsFemaleFollow-Up StudiesGenetic Predisposition to DiseaseGenotypeHumansLIM Domain ProteinsMaleAdaptor Proteins, Signal TransducingADH1B protein, humanADH1C protein, humanAlcohol DehydrogenaseAminopeptidasesCCDC88A protein, humanEukaryotic Initiation FactorsLIM Domain ProteinsMETAP1 protein, humanMicrofilament ProteinsMitochondrial ProteinsMTIF2 protein, humanPDLIM5 protein, humanVesicular Transport Proteins

Identifiers

PMID24166409
PMCPMC4165335
OpenAlexW2147425235

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Registered trials

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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.