rs2075633
This is a intron variant variant in the ADH1B 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 ADH1B
The protein encoded by this gene 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. This encoded protein, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
View all ADH1B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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