Association of rare PTP4A1-PHF3-EYS variants with alcohol dependence
doi: 10.1038/jhg.2012.153
pmid: 23324950
Association of rare PTP4A1-PHF3-EYS variants with alcohol dependence
In a recent genome-wide association study (GWAS), we identified a unique novel, functional and replicable risk genomic region for alcohol dependence. This region (Chr6: 64,066,604-64,831,120) included the protein tyrosine phosphatase type IVA 1 gene (PTP4A1), the plant homeodomain finger protein 3 gene (PHF3) and part of the eyes shut homolog gene (EYS). It was enriched with numerous replicable common risk variants (minor allele frequency (MAF) >0.05) for alcohol dependence across African–Americans, European–Americans and European–Australians. Within 90 Mb range surrounding this region in the discovery sample, all variants with P<10−4 were concentrated in this region. Most of these risk variants had significant cis-acting regulatory effects on mRNA expression. The distributions of −log(P) values for association and functional signals in this region were highly consistent across six independent populations. We thus speculated that this region might harbor a causal variant(s) for alcohol dependence.1
- Baylor College of Medicine United States
- Yale University United States
- Tulane University United States
Membrane Proteins, Cell Cycle Proteins, Polymorphism, Single Nucleotide, Cohort Studies, Alcoholism, Risk Factors, Ethnicity, Schizophrenia, Humans, Genetic Predisposition to Disease, Protein Tyrosine Phosphatases, Eye Proteins, Genetic Association Studies, Transcription Factors
Membrane Proteins, Cell Cycle Proteins, Polymorphism, Single Nucleotide, Cohort Studies, Alcoholism, Risk Factors, Ethnicity, Schizophrenia, Humans, Genetic Predisposition to Disease, Protein Tyrosine Phosphatases, Eye Proteins, Genetic Association Studies, Transcription Factors
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