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Journal of Human Genetics
Article . 2013 . Peer-reviewed
License: Springer TDM
Data sources: Crossref
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Association of rare PTP4A1-PHF3-EYS variants with alcohol dependence

Authors: Lingjun, Zuo; Xiangyang, Zhang; Hong-Wen, Deng; Xingguang, Luo;

Association of rare PTP4A1-PHF3-EYS variants with alcohol dependence

Abstract

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

Related Organizations
Keywords

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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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
11
Average
Average
Top 10%
bronze