CYP2C8 polymorphism frequencies among Han, Uighur, Hui, and Mongolian Chinese populations

To determine the allele frequency of three codon-changing variants (CYP2C8*2, CYP2C8*3, and CYP2C8*4) in the Han, Uighur, Hui, and Mongolian Chinese populations, and compare genetic polymorphism differences between the Han and minority Chinese ethnicities.

Five hundred seventy four healthy unrelated volunteers from four major nationalities (Han: 136; Uighur: 153; Hui: 158; Mongolian: 127) in China were recruited. The study was approved by the local research ethics committee. DNA was extracted from peripheral leukocytes using a standard protocol. A polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was developed to detect three alleles of CYP2C8. PCR results were confirmed by subsequent direct DNA sequencing.

The three minorities showed the CYP2C8 polymorphism with an allele frequency as follows: the allele frequencies of CYP2C8*2, CYP2C8*3, and CYP2C8*4 were 0.33%, 2.94%, and 2.29% in Uighur; 0.39%, 1.57%, and 1.18% in Mongolian, and 0%, 1.58%, and 0.63% in Hui, respectively. For Han, CYP2C8*2, CYP2C8*3, and CYP2C8*4 were absent.

To the best of our knowledge, the current study described polymorphisms of CYP2C8 in Chinese minorities for the first time. The results showed that there were significant ethnic differences in the distribution of CYP2C8 in the Han and three minorities, that is, the Uighur, Hui, and Mongolian Chinese populations.