Analysis of CYP2J2 polymorphisms in the Chinese Uyghur population

Abstract

Background: Genetic characteristics of CYP2J2 in different populations may be helpful to explore inter-ethnic variability in drug response and disease susceptibility. There is no information about the genetic profile of CYP2J2 in the Chinese Uygur population.Methods: We used PCR and direct sequencing to investigate the whole CYP2J2 in 100 unrelated healthy individuals of Chinese Uygur populations. Chi-square test was used to compare genotyping data of CYP2J2 in the Chinese Uygur population with other races. The SIFT and PolyPhen-2 online tools were used to predict the protein function of the novel non-synonymous mutations in CYP2J2. The CADD software was used to predict pathogenicity for mutations.Results: We detected twenty-eight polymorphisms in the CYP2J2, including five new mutations, three alleles (*1, *7 and *8), and three genotypes (*1/*1, *1/*7 and *1/*8) of CYP2J2 in Chinese Uyghur population. The allele frequencies of CYP2E1*1, *7 and *8 were 96%, 3.45%, and 0.5%, respectively. Interethnic comparison found that *1 was significantly higher than Taiwanese and African-Americans; and*7 was relatively lower when compared with Taiwanese and African-Americans (p < 0.05). Furthermore, the protein prediction results revealed that the five non-synonymous mutations could influence the protein structure and function.Conclusion: The observations of this study give rise to useful information on CYP2J2 polymorphisms in Chinese Uygur individuals. We hope the results will indicate important clinical implications for the use of medications metabolized by CYP2J2.