ArticlePloS one2011
A novel, functional and replicable risk gene region for alcohol dependence identified by genome-wide association study.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 3 of them syntheses that pooled it.
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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.
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Who cites it
34 citing papers in PubMed, 3 syntheses or guidelines pooled it, 54 citations in OpenAlex.
- Genome-wide interaction study of a proxy for stress-sensitivity and its prediction of major depressive disorder.PloS one · 2018Pooled it
- A New Genomewide Association Meta-Analysis of Alcohol Dependence.Alcoholism, clinical and experimental research · 2015Pooled it
- Genome-wide association discoveries of alcohol dependence.The American journal on addictionsPooled it
- Association between common alcohol dehydrogenase gene (ADH) variants and schizophrenia and autism.Human genetics · 2013Trial
- Alcohol and alcoholism associated neurological disorders: Current updates in a global perspective and recent recommendations.World journal of experimental medicine · 2025Review
- Association between polygenic risk for tobacco or alcohol consumption and liability to licit and illicit substance use in young Australian adults.Drug and alcohol dependence · 2019Article
- Problematic alcohol use associates with sodium channel and clathrin linker 1 (SCLT1) in trauma-exposed populations.Addiction biology · 2018Article
- Full genetic analysis for genome-wide association study of Fangji: a powerful approach for effectively dissecting the molecular architecture of personalized traditional Chinese medicine.Acta pharmacologica Sinica · 2018Review
- Integrating Genetic and Gene Co-expression Analysis Identifies Gene Networks Involved in Alcohol and Stress Responses.Frontiers in molecular neuroscience · 2018Article
- The genetic epidemiology of substance use disorder: A review.Drug and alcohol dependence · 2017Review
- Analyses of differentially expressed genes after exposure to acute stress, acute ethanol, or a combination of both in mice.Alcohol (Fayetteville, N.Y.) · 2017Article
- Overview of the Genetics of Alcohol Use Disorder.Alcohol and alcoholism (Oxford, Oxfordshire) · 2016Review
- Transethnic Genetic-Correlation Estimates from Summary Statistics.American journal of human genetics · 2016Article
- Identification of candidate genes that underlie the QTL on chromosome 1 that mediates genetic differences in stress-ethanol interactions.Physiological genomics · 2015Article
- Gene-based and pathway-based genome-wide association study of alcohol dependence.Shanghai archives of psychiatry · 2015Article
- Article
- Genetics of alcoholism.Current psychiatry reports · 2014Review
- Genetics and genomics of alcohol sensitivity.Molecular genetics and genomics : MGG · 2014Review
- Transcriptome study of differential expression in schizophrenia.Human molecular genetics · 2013Article
- Sex chromosome-wide association analysis suggested male-specific risk genes for alcohol dependence.Psychiatric genetics · 2013Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
Abstract
Several genome-wide association studies (GWASs) reported tens of risk genes for alcohol dependence, but most of them have not been replicated or confirmed by functional studies. The present study used a GWAS to search for novel, functional and replicable risk gene regions for alcohol dependence. Associations of all top-ranked SNPs identified in a discovery sample of 681 African-American (AA) cases with alcohol dependence and 508 AA controls were retested in a primary replication sample of 1,409 European-American (EA) cases and 1,518 EA controls. The replicable associations were then subjected to secondary replication in a sample of 6,438 Australian family subjects. A functional expression quantitative trait locus (eQTL) analysis of these replicable risk SNPs was followed-up in order to explore their cis-acting regulatory effects on gene expression. We found that within a 90 Mb region around PHF3-PTP4A1 locus in AAs, a linkage disequilibrium (LD) block in PHF3-PTP4A1 formed the only peak associated with alcohol dependence at p<10(-4). Within this block, 30 SNPs associated with alcohol dependence in AAs (1.6×10(-5)≤p≤0.050) were replicated in EAs (1.3×10(-3)≤p≤0.038), and 18 of them were also replicated in Australians (1.8×10(-3)≤p≤0.048). Most of these risk SNPs had strong cis-acting regulatory effects on PHF3-PTP4A1 mRNA expression across three HapMap samples. The distributions of -log(p) values for association and functional signals throughout this LD block were highly consistent across AAs, EAs, Australians and three HapMap samples. We conclude that the PHF3-PTP4A1 region appears to harbor a causal locus for alcohol dependence, and proteins encoded by PHF3 and/or PTP4A1 might play a functional role in the disorder.
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