rs28371746
This variant is located in the CYP2E1 gene.
▶ClinVar annotation
▶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 CYP2E1
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 and is induced by ethanol, the diabetic state, and starvation. The enzyme metabolizes both endogenous substrates, such as ethanol, acetone, and acetal, as well as exogenous substrates including benzene, carbon tetrachloride, ethylene glycol, and nitrosamines which are premutagens found in cigarette smoke. Due to its many substrates, this enzyme may be involved in such varied processes as gluconeogenesis, hepatic cirrhosis, diabetes, and cancer. [provided by RefSeq, Jul 2008]
View all CYP2E1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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