rs8192789
This is a protein-altering variant in the CYP2A13 gene.
▶Research that mentions this SNP (1)
▶Genetic variability in the metabolism of the tobacco‐specific nitrosamine 4‐(methylnitrosamino)‐1‐(3‐pyridyl)‐1‐butanone (NNK) to 4‐(methylnitrosamino)‐1‐(3‐pyridyl)‐1‐butanol (NNAL)AssociationN=92Monica Ter‐Minassian et al.(2012)· International Journal of Cancer
This candidate gene study examined genetic polymorphisms in NNK (tobacco-specific nitrosamine) metabolism pathways and their association with urinary NNAL (NNK metabolite) levels in 92 current smokers (39 lung cancer cases, 53 controls). Three HSD11B1 SNPs (rs2235543, rs3753519, rs10863782) in intron 1 were significantly associated with decreased NNAL levels, with rs2235543 showing the strongest association (p=1.37E-07, beta=-0.27 to -0.39). AKR1C4 rs7083869 also showed association with decreased NNAL (p=0.019), while CYP2E1 rs915907 showed borderline significance under the dominant model (p=0.048).
About CYP2A13
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. Although its endogenous substrate has not been determined, it is known to metabolize 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone, a major nitrosamine specific to tobacco. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]
View all CYP2A13 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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