rs1573496
This is a protein-altering variant in the ADH7 gene.
▶Research that mentions this SNP (2)
▶Genetic variants at 4q21, 4q23 and 12q24 are associated with esophageal squamous cell carcinoma risk in a Chinese populationAssociationN=4,412Yong Gao et al.(2013)· Human Genetics
A case-control study of 2,139 esophageal squamous cell carcinoma (ESCC) cases and 2,273 controls in a Chinese population examined six SNPs previously associated with upper aerodigestive tract cancers in Europeans. Four SNPs showed significant association with ESCC risk: rs1494961 at 4q21 (OR=1.15, 95% CI=1.05-1.26), rs1229984 in ADH1B at 4q23 (OR=1.24, 95% CI=1.13-1.36), rs1789924 near ADH1C at 4q23 (OR=1.20, 95% CI=1.03-1.39), and rs671 in ALDH2 at 12q24 (OR=0.83, 95% CI=0.75-0.91). Combined analysis showed significant allele-dosage effects with individuals carrying 5+ risk alleles having 1.76-fold increased ESCC risk.
▶A single nucleotide polymorphism in the alcohol dehydrogenase 7 gene (alanine to glycine substitution at amino acid 92) is associated with the risk of squamous cell carcinoma of the head and neckAssociationN=2,239Sheng Wei et al.(2010)· Cancer
Hospital-based case-control study of 1,110 SCCHN cases and 1,129 controls examining alcohol dehydrogenase gene polymorphisms. ADH7 A92G (rs1573496: C>G) GG and combined CG+GG genotypes were associated with decreased SCCHN risk (adjusted OR 0.32, 95% CI 0.13-0.82 for GG; adjusted OR 0.74, 95% CI 0.59-0.94 for CG+GG). ADH1B R48H (rs1229984: G>A) showed no overall association with SCCHN risk in this non-Hispanic White population.
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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