rs1042026
This is a 3 prime utr variant variant in the ADH1B gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶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.
▶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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