Genetic polymorphism analysis of cytochrome P4502E1 (CYP2E1) in Chinese Han populations from four different geographic areas of Mainland China

CYP2E1 is one of a superfamily of enzymes that play a central role in activating and detoxifying many xenobiotics and endogenous compounds thought to be involved in the development of several human diseases. Among other factors, individual susceptibility to developing these pathologies relies on genetic polymorphisms, which are related to ethnic differences, since the frequency of mutant genotypes varies in different populations. The aim of this study was to investigate the genetic basis of CYP2E1 polymorphisms in the populations of four different geographical locations of China. Twenty-two different CYP2E1 polymorphisms, including six novel variants in promoter regions and a novel nonsense mutation, were identified. The frequencies of some polymorphisms and genotypes demonstrated significant differences among the four populations. Linkage disequilibrium analysis and tag SNP selection were performed. Haplotypes were analyzed within the selected tag SNPs. Tag SNP selection and haplotype distributions showed differences across the four populations.