Evidence map›Paper›PMID 24277619›Full record

ArticleAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics2014

ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.

Ellen E Quillen, Xiang-Ding Chen, Laura Almasy, Fang Yang, Hao He, Xi Li, Xu-Yi Wang, Tie-Qiao Liu, Wei Hao, Hong-Wen Deng and 2 more

Open access · greenAbstract read
In one paragraph

Article in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 83 papers, 8 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
83citing papers in PubMed, 8 pooled it
5.3field-weighted citation impact, top 4% 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

83 citing papers in PubMed, 8 syntheses or guidelines pooled it, 115 citations in OpenAlex.

  1. Pooled it
  2. 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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  15. Human genetics and epigenetics of alcohol use disorder.The Journal of clinical investigation · 2024
    Review
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23 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

12 authors at 7 institutions in 2 countries.

Ellen E QuillenDepartment of Genetics, Texas Biomedical Research Institute, San Antonio, Texas.
Xiang-Ding Chen
Laura Almasy
Fang Yang
Hao He
Xi Li
Xu-Yi Wang
Tie-Qiao Liu
Wei Hao
Hong-Wen Deng
Henry R Kranzler
Joel Gelernter
Hunan Normal University · CNCentral South University · CNTexas Biomedical Research Institute · USPhiladelphia VA Medical Center · USSecond Xiangya Hospital of Central South University · CNTulane University · USVA Connecticut Healthcare System · US

Funding

Translational Technologies CoreP50AA012870 · NIAAA · YALE UNIVERSITY · PI John H. Krystal · 2001 to 2026
$43.7M
GENETICS OF COCAINE DEPENDENCER01DA012849 · NIDA · YALE UNIVERSITY · PI GELERNTER, JOEL · 1999 to 2010
$11.5M
Quantitative Trait Locus Mapping in Human PedigreesR37MH059490 · NIMH · TEXAS BIOMEDICAL RESEARCH INSTITUTE · PI BLANGERO, JOHN · 2001 to 2010
$6.8M
Identification of Proteins Important for Male OsteoporosisR01AR057049 · NIAMS · UNIVERSITY OF MISSOURI KANSAS CITY · PI DENG, HONG-WEN · 2009 to 2013
$2.4M
Novel Approaches to Alcoholism Pharmacotherapy and RiskK24AA013736 · NIAAA · UNIVERSITY OF PENNSYLVANIA · PI KRANZLER, HENRY RICHARD · 2002 to 2012
$1.5M
QUANTITATIVE TRAIT LOCUS MAPPING IN HUMAN PEDIGREESR01MH059490 · NIMH · SOUTHWEST FOUNDATION FOR BIOMEDICAL RES · PI BLANGERO, JOHN · 1998 to 2000
$426k
Alcohol Dependence Genetics in a Large Chinese PedigreeR21AA015973 · NIAAA · YALE UNIVERSITY · PI GELERNTER, JOEL · 2007 to 2008
$345k
NIAAA NIH HHS K24 AA013736NIAAA NIH HHS P50 AA012870NIAAA NIH HHS P50 AA12870NIAAA NIH HHS R21 AA015973NIAAA NIH HHS R21AA015973NIAMS NIH HHS R01 AR057049NIDA NIH HHS R01 DA012849NIDA NIH HHS R01 DA12849NIMH NIH HHS MH059490NIMH NIH HHS R01 MH059490NIMH NIH HHS R37 MH059490
6 · The paper itself

Abstract

Alcohol dependence (AD) is a moderately heritable phenotype with a small number of known risk genes mapped via linkage or candidate gene studies. We considered 313 males from among 595 members of documented, extended pedigrees in which AD segregates collected in Northern Hunan Province, China. A joint analysis of both males and females could not be performed as the difference in alcohol consumption variance was too large. Genome-wide association analyses were performed for approximately 300,000 single nucleotide polymorphisms (SNPs). Significant associations found in the ALDH2 region for AD (minimum P = 4.73 × 10(-8)) and two AD-related phenotypes: flushing response (minimum P = 4.75 × 10(-26)) and maximum drinks in a 24-hr period (minimum P = 1.54 × 10(-16)). Association of previous candidate SNP, rs10774610 in CCDC63, was confirmed but resulted from linkage disequilibrium with ALDH2. ALDH2 is strongly associated with flushing response, AD, and maximum drinks in males, with nonsynonymous SNP rs671 explaining 29.2%, 7.9%, and 22.9% of phenotypic variation, respectively, in this sample. When rs671 was considered as a candidate SNP in females, it explained 23.6% of the variation in flushing response, but alcohol consumption rates were too low among females-despite familial enrichment for AD-for an adequate test of association for either AD or maximum drinks. These results support a mediating effect of aldehyde dehydrogenase deficiency on alcohol consumption in males and a secondary, culturally mediated limitation on alcohol consumption by females that should be appropriately modeled in future studies of alcohol consumption in populations where this may be a factor.

Indexed as

Genetic Predisposition to DiseaseAdultAgedAged, 80 and overAlcoholismAldehyde DehydrogenaseAldehyde Dehydrogenase, MitochondrialAsian PeopleFemaleGenetic TestingGenome-Wide Association StudyGenotypeHumansMaleMiddle AgedPedigreeAldehyde DehydrogenaseAldehyde Dehydrogenase, MitochondrialALDH2 protein, humanalcohol dependencealdehyde dehydrogenaseflushing responsegenome-wide associationmaximum drinks

Identifiers

PMID24277619
PMCPMC4149216
OpenAlexW2079854622

What OpenQuestion holds

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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.