Association of Functionally important polymorphisms in CYP2E1 Gene in North Indian Population

Abstract

CYP2E1, enzymes belong to phase I group of

drug-metabolizing enzymes, which are involved in the

metabolism of various compounds and xenobiotics. In

this study we have discuss only CYP2E1 gene. This

gene, involved in metabolism of ethanol and tobacco

associated nitrosamines, may play a crucial role in the

metabolism of various drugs or chemicals and

carcinogenic, like vinyl chloride or tobacco associated

nitrosamines. Several single nucleotide polymorphisms

(SNPs) have been implicated in CYP2E1 gene which

may have varied effects on the various processes such

as gluconeogenesis, cirrhosis, and cancer. CYP2E1 gene

has been shown to have large inter-individual and inter

ethnic variability in levels of expression and activity.

This study was carried out to estimate (N =150) the

allele and genotype frequencies of common variants in

CYP2E1 gene in North Indian population. RFLP-PCR,

allele-specific PCR, gradient PCR, and gene sequencing

methods and restriction enzyme DraI and RsaI enzyme

were used for the identification of gene polymorphisms.

The frequency of RsaI wild type genotype (c1c1) was

99.5% while heterozygous genotype (c1c2) was found

to be 2.5% in controls. In contrast, no homozygous

mutant genotype (c2c2) was found. Genetic

polymorphism exists in CYP2E1gene. A large

proportion of individuals carried of CYP2E1 gene. The

study of CYP2E1gene could further be utilized in case

control studies involving certain diseases like cancer,

etc.