rs284787
This variant is located in the ADH7 gene.
▶Research that mentions this SNP (2)
▶The genetics of alcohol dependence: Twin and SNP‐based heritability, and genome‐wide association study based on AUDIT scoresAssociationN=7,842Hamdi Mbarek et al.(2015)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This genome-wide association study investigated the genetic basis of alcohol dependence (AD) in 7,842 Dutch participants using the AUDIT screening measure. Twin-based heritability was estimated at 60% (95% CI: 55-69%) and common SNPs explained 33% of this heritability. The GWAS identified four suggestive loci (4q34.1, 2p16.1, 6q25.3, 7p14.1) with the strongest association at rs55768019 (P=7.58×10⁻⁷, OR=0.80). Replication confirmed known AD variants: rs1229984 in ADH1B (P=1.58×10⁻⁴, OR=1.77) and rs7119734 in DSCAML1 (P=7.5×10⁻³, OR=1.16).
▶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.
About ADH7
This gene encodes class IV alcohol dehydrogenase 7 mu or sigma subunit, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The enzyme encoded by this gene is inefficient in ethanol oxidation, but is the most active as a retinol dehydrogenase; thus it may participate in the synthesis of retinoic acid, a hormone important for cellular differentiation. The expression of this gene is much more abundant in stomach than liver, thus differing from the other known gene family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
View all ADH7 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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