Evidence map›Paper›PMID 23516558›Full record

ArticlePloS one2013

Replication of genome wide association studies of alcohol dependence: support for association with variation in ADH1C.

Joanna M Biernacka, Jennifer R Geske, Terry D Schneekloth, Mark A Frye, Julie M Cunningham, Doo-Sup Choi, Courtney L Tapp, Bradley R Lewis, Maureen S Drews, Tracy L Pietrzak and 6 more

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 1 pooled it
4.3field-weighted citation impact, top 6% 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

20 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.

  1. Pooled it
  2. Trial
  3. Review
  4. Article
  5. Impact of Natural OccurringInternational journal of molecular sciences · 2020
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  11. PNPLA3 Association with Alcoholic Liver Disease in a Cohort of Heavy Drinkers.Alcohol and alcoholism (Oxford, Oxfordshire) · 2018
    Article
  12. Review
  13. Article
  14. Review
  15. Overview of the Genetics of Alcohol Use Disorder.Alcohol and alcoholism (Oxford, Oxfordshire) · 2016
    Review
  16. Article
  17. Article
  18. Article
  19. Article
  20. Review
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

16 authors at 3 institutions in 1 country.

Joanna M BiernackaDepartment of Psychiatry & Psychology, Mayo Clinic, Rochester, Minnesota, United States of America. biernacka.joanna@mayo.edu
Jennifer R Geske
Terry D Schneekloth
Mark A Frye
Julie M Cunningham
Doo-Sup Choi
Courtney L Tapp
Bradley R Lewis
Maureen S Drews
Tracy L Pietrzak
Colin L Colby
Daniel K Hall-Flavin
Larissa L Loukianova
John A Heit
David A Mrazek
Victor M Karpyak
Mayo Clinic · USMayo Clinic in Florida · USWinnMed · US

Funding

JH/CIDR Genotyping for Genome-Wide Association StudiesU01HG004438 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2007 to 2011
$24.2M
The Mayo Clinic Center for Individualized Treatment of Alcohol DependenceP20AA017830 · NIAAA · MAYO CLINIC ROCHESTER · PI CHOI, DOO-SUP · 2009 to 2010
$2.5M
GWAS of Venous ThrombosisU01HG004735 · NHGRI · MAYO CLINIC ROCHESTER · PI HEIT, JOHN A. · 2008 to 2009
$1.1M
NHGRI NIH HHS HG04735NHGRI NIH HHS HHSN268200782096CNHGRI NIH HHS U01 HG004438NHGRI NIH HHS U01HG004438NHGRI NIH HHS U01 HG004735NIAAA NIH HHS P20 AA017830NIAAA NIH HHS P20 AA17830ZPHS HHS 268200782096C
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) have revealed many single nucleotide polymorphisms (SNPs) associated with complex traits. Although these studies frequently fail to identify statistically significant associations, the top association signals from GWAS may be enriched for true associations. We therefore investigated the association of alcohol dependence with 43 SNPs selected from association signals in the first two published GWAS of alcoholism. Our analysis of 808 alcohol-dependent cases and 1,248 controls provided evidence of association of alcohol dependence with SNP rs1614972 in the ADH1C gene (unadjusted p = 0.0017). Because the GWAS study that originally reported association of alcohol dependence with this SNP [1] included only men, we also performed analyses in sex-specific strata. The results suggest that this SNP has a similar effect in both sexes (men: OR (95%CI) = 0.80 (0.66, 0.95); women: OR (95%CI) = 0.83 (0.66, 1.03)). We also observed marginal evidence of association of the rs1614972 minor allele with lower alcohol consumption in the non-alcoholic controls (p = 0.081), and independently in the alcohol-dependent cases (p = 0.046). Despite a number of potential differences between the samples investigated by the prior GWAS and the current study, data presented here provide additional support for the association of SNP rs1614972 in ADH1C with alcohol dependence and extend this finding by demonstrating association with consumption levels in both non-alcoholic and alcohol-dependent populations. Further studies should investigate the association of other polymorphisms in this gene with alcohol dependence and related alcohol-use phenotypes.

Indexed as

Genome-Wide Association StudyPolymorphism, Single NucleotideAlcohol DehydrogenaseAlcoholismCase-Control StudiesFemaleHumansMaleMiddle AgedReproducibility of ResultsADH1C protein, humanAlcohol Dehydrogenase

Identifiers

PMID23516558
PMCPMC3596339
OpenAlexW1984777071

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

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.