Distribution of CYP2C19, ABCB1 and PON1 polymorphisms in Chinese Han, Hui, Uygur and Kazak patients with coronary atherosclerotic heart disease

CYP2C19, ABCB1 and PON1 polymorphisms involve in the metabolism and absorption of clopidogrel, which may be associated with interethnic variability of clopidogrel response. In our study, we evaluated the prevalence of CYP2C19, ABCB1 and PON1 single nucleotide polymorphisms (SNP) in patients with coronary atherosclerotic heart disease (CHD) of Chinese Han, Hui, Uygur and Kazak ethnic groups. Five SNPs were detected [CYP2C19 ∗2 (rs4244285), CYP2C19 ∗3 (rs4986893), CYP2C19 ∗17 (rs12248560), ABCB1 (rs1045642) and PON1 (rs662)]. The analysis was performed in 1,337 patients with CHD, including 831 Han, 85 Hui, 352 Uygur and 69 Kazak. The results revealed the differential distribution of the five SNPs. Frequencies of CYP2C19 no function variants in Uygur and Kazak were lower than those in Han and Hui groups (P < .05). CYP2C19 variants with increased function were more common in Uygur (13.6%) and Kazak (10.9%) groups (P < .05). Compared with Han and Hui groups, distribution of ABCB1 allele T was more prevalent in Uygur and Kazak groups (53.8% and 50.7%, respectively, P < .05). PON1 allele A frequencies of 55.7% and 58.7% in Uygur and Kazak showed higher prevalence than in the Han (38.4%) and Hui (43.5%) groups (P < .05). In conclusion, CYP2C19 *2 and *3 alleles are prevalent in Chinese Han and Hui groups, whereas CYP2C19 *17, ABCB1 T and PON1 A variants are relatively frequent in Chinese Uygur and Kazak ethnic groups. Our findings may provide a theoretical basis for the explanation of ethnic differences in determining clinical therapy strategies and predicting adverse effects.