Annotation Detail
Information
- Associated Genes
- AKR1A1
- Associated Variants
-
ADH1B p.His48Arg (p.H48R)
(
ENST00000305046.13,
ENST00000506651.5,
ENST00000625860.2 )
ADH7 p.Gly100Ala (p.G100A) ( ENST00000209665.8, ENST00000437033.7, ENST00000476959.5, ENST00000482593.5 )
ADH1B p.His48Arg (p.H48R) ( ENST00000305046.13, ENST00000506651.5, ENST00000625860.2 )
ADH7 p.Gly100Ala (p.G100A) ( ENST00000209665.8, ENST00000437033.7, ENST00000476959.5, ENST00000482593.5 ) - Associated Disease
- Squamous cell carcinoma of the head and neck
- Source Database
- DisGeNET
- Description
- The authors conducted a hospital-based study of 1110 patients with squamous cell carcinoma of the head and neck (SCCHN) and a control group of 1129 patients to replicate the associations reported by a recent, large European study between 2 potentially functional single nucleotide polymorphisms (SNPs) of the alcohol dehydrogenase (ADH) genes, a substitution in ADH1B at amino acid 48 from arginine to histidine (R48H) (reference SNP number [rs]1229984; guanine to adenine [G-->A]) and a substitution in ADH7 at amino acid 92 from alanine to glycine (A92G) (rs1573496; cytosine to guanine [C-->G]), and the risk of squamous cell carcinoma of the head and neck (SCCHN).
- Pubmed
- 20336794
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2010
Drugs