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

Rashmi Singh


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 tobaccoassociated 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 interethnic 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 casecontrol studies involving certain diseases like cancer, etc.

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