rs6413420
This is a downstream gene variant variant in the CYP2E1 gene.
▶Research that mentions this SNP (2)
▶Variation in PAH‐related DNA adduct levels among non‐smokers: The role of multiple genetic polymorphisms and nucleotide excision repair phenotypeAssociationN=111Arash Etemadi et al.(2013)· International Journal of Cancer
This study examined PAH-related DNA adduct levels in 111 female never-smokers from Iran, evaluating 21 SNPs in 14 xenobiotic metabolism genes and 12 SNPs in 8 DNA repair genes. DNA adduct levels were significantly lower with NAT2 slow alleles (β=-0.24, p=0.01) and ERCC5 non-risk genotype (β=0.16, p=0.04), but higher with MPO risk alleles (β=0.21, p=0.01). The combination of phase I genes and measured NER capacity explained 17% more variation in adduct levels than environmental exposure alone (r²=0.24 vs 0.07), demonstrating the importance of genetic polymorphisms in PAH metabolism and DNA repair capacity.
▶Genotype and allele frequencies of polymorphic CYP2E1 in the Turkish populationAssociationN=206Gulen Ulusoy et al.(2007)· Archives of Toxicology
This population genetics study examined genotype and allele frequencies of three CYP2E1 polymorphisms (CYP2E1*5B, *6, and *7B) in a sample of 206 healthy Turkish subjects. The CYP2E1*5B variant (rs2031920/rs3813867, C-1053T/G-1293C) showed a frequency of 1.94%, CYP2E1*6 (rs6413432, T7632A) showed 8.25%, and CYP2E1*7B (rs6413420, G-71T) showed 6.80%. Turkish frequencies were similar to other Caucasian populations but significantly different from East Asian populations.
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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