rs1614972
This variant is located in the ADH1C gene.
▶Research that mentions this SNP (2)
▶Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replicationAssociationN=1,371Byung Lae Park et al.(2013)· Human Genetics
This GWAS and replication study in a Korean cohort identified genetic associations with alcohol dependence (AD), with the ADH gene cluster on chromosome 4q22-q23 and ALDH2 on 12q24 showing the strongest signals. The most significant finding was ADH1B rs1229984 (H47R) with p=2.63×10⁻²¹ and OR=2.35 in the replication cohort of 975 subjects. Conditional analyses revealed that ADH1B rs1229984 is likely the sole functional marker driving effects across the ADH cluster.
▶Genome-wide Association Study of Alcohol DependenceAssociationN=3,792Treutlein J. et al.(2009)· Archives of General Psychiatry
Genome-wide association study and replication study identifying susceptibility genes for alcohol dependence in 1460 German male patients with early-onset alcohol dependence and 2332 controls. Two SNPs met genome-wide significance: rs7590720 (p=9.72×10⁻⁹) and rs1344694 (p=1.69×10⁻⁸) on chromosome 2q35 near the PECR gene. Nine additional SNPs showed significant replication in genes including CDH13, ADH1C, CAST, and ERAP1.
About ADH1C
This gene encodes class I alcohol dehydrogenase, gamma subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class I alcohol dehydrogenase, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation to acetaldehyde, thus playing a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. An association between ADH1C polymorphism and alcohol dependence has not been established. [provided by RefSeq, Sep 2019]
View all ADH1C variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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