Allele and genotype frequencies of CYP3A4, CYP2C19, and CYP2D6 in Han, Uighur, Hui, and Mongolian Chinese populations.

Purpose: This study was carried out to estimate the allele and genotype frequencies of common variants in the CYP3A4, CYP2C19, and CYP2D6 in the Han, Uighur, Hui, and Mongolian Chinese populations and compare genetic polymorphisms difference between the Han and minority Chinese ethnicities.

Methods: We evaluated 672 unrelated, healthy Chinese volunteers (Han: 136; Uighur: 214; Hui: 164; Mongolian: 158). Genomic DNA was extracted from peripheral leukocytes and genotyped for CYP3A4*18, CYP2C19*2, *3, and CYP2D6*10 by polymerase chain reaction-restriction fragment length polymorphism analysis.

Results: The allele frequencies of CYP3A4*18 in the Han, Uighur, Hui, and Mongolian Chinese population were 18.4%, 14.0%, 19.2%, and 20.3%, respectively; the allele frequencies of CYP2C19*2 were 38.6%, 32.5%, 49.4%, and 41.5%, respectively; the allele frequencies of CYP2C19*3 were 5.2%, 2.1%, 5.2%, and 4.4%, respectively; and the allele frequencies of CYP2D6*10 were 57.4%, 22.4%, 39.7%, and 46.5%, respectively.

Conclusion: The results showed that there was no significant ethnic difference in the distribution of CYP3A4*18 and CYP2C19*3 genotypes in the Han, Uighur, Hui, and Mongolian Chinese populations. For CYP2C19*2, the Han were not significantly different from the Uighur, Hui, or Mongolian; however, the Uighur were significantly lower than the Hui and the Mongolian, and the Mongolian were significantly lower than the Hui. For CYP2D6*10, the Mongolian were not significantly different from the Han and the Hui. However, the Uighur were significantly lower than the other three. Our findings confirm the existence of interethnic differences in the CYP2C9, CYP2C19, and CYP2D6 alleles and genotype frequencies in the Han, Uighur, Hui, and Mongolian Chinese populations.