rs2066702
This is a variant in the ADH1B gene that changes a arginine to an cysteine.
▶GWAS Catalog Trait Associations (16)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (16)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶ClinVar annotation
▶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).
▶ADH1A variation predisposes to personality traits and substance dependenceAssociationN=1,523Lingjun Zuo et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
ADH1A genetic variation predisposes to personality traits and substance dependence across multiple population groups. Agreeableness and Conscientiousness were associated with ADH1A diplotypes, haplotypes, and genotypes in European-American and African-American subjects (p range: 1.7×10⁻⁴ to 0.055), with effects modified by sex and age. Substance dependence was significantly associated with ADH1A variants (p range: 0.008 to 0.060), suggesting ADH1A's role in both personality phenotyping and addiction vulnerability.
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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