Analysis of CYP2J2 mutations in the Chinese Uyghur population

Genetic characteristics of CYP2J2 in different populations may be helpful to explore interethnic variability in drug response and disease susceptibility. There is no information about the genetic profile of CYP2J2 in the Chinese Uyghur population. We used PCR and first-generation sequencing technology to investigate CYP2J2 mutations in 100 unrelated healthy Chinese Uyghurs. The chi-square test was used to compare genotyping data of CYP2J2 in the Chinese Uyghur population with other ethnic groups. The SIFT and PolyPhen-2 online tools were used to predict the protein function of the novel nonsynonymous mutations in CYP2J2. CADD software was used to predict pathogenicity of the mutations. We found twenty-eight mutations in CYP2J2, five new mutations, three alleles (*1, *7 and *8), and three genotypes (*1/*1, *1/*7 and *1/*8) in the Chinese Uyghur population. The allele frequencies of CYP2J2 *1, *7 and *8 were 96%, 3.45%, and 0.5%, respectively. Interethnic comparison found that subgenotype *1 in Uyghur was significantly higher than in Taiwanese and African Americans, and *7 frequency in Uyghur was slightly lower than that in Taiwanese and African Americans (P<0.05); *8 was only found in Chinese Uyghur and Korean populations, with frequencies of 0.5% and 0.8%, respectively. Furthermore, the protein prediction results revealed that the five nonsynonymous mutations could influence protein structure and function. The observations of this study give rise to useful information on CYP2J2 mutations in Chinese Uyghurs, which may support future important clinical implications for the use of medications metabolized by CYP2J2.