rs1046778
This is a regulatory region variant variant in the AS3MT gene.
▶Research that mentions this SNP (1)
▶Genetic variation in arsenic (+3 oxidation state) methyltransferase (AS3MT), arsenic metabolism and risk of basal cell carcinoma in a European populationAssociationN=1,062Karin S. Engström et al.(2015)· Environmental and Molecular Mutagenesis
A European case-control study of 529 BCC cases and 533 controls examined AS3MT genetic haplotypes and their association with arsenic metabolism and basal cell carcinoma risk. Five AS3MT haplotypes based on rs3740400, rs3740393, rs11191439, and rs1046778 were identified. The CCTC haplotype (haplotype 2) was associated with more efficient arsenic metabolism and protective effect (OR=1.0, p=0.85), while the CGCT haplotype (haplotype 4) showed higher toxic MMA levels and increased BCC risk (OR=1.1-1.4). Individuals lacking both haplotypes 1 and 2 had the highest arsenic-related BCC risk (OR=2.7, 95% CI 1.5-4.8).
About AS3MT
AS3MT catalyzes the transfer of a methyl group from S-adenosyl-L-methionine (AdoMet) to trivalent arsenical and may play a role in arsenic metabolism (Lin et al., 2002 [PubMed 11790780]).[supplied by OMIM, Mar 2008]
View all AS3MT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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