新疆喀什地区汉族与维吾尔族心脑血管疾病患者 CYP2 C19基因多态性分析

摘要

Objective To analyze the gene polymorphisms of CYP 2C19 in cardiovascular and cerebrovascular diseases patients of Chinese Han and Uyghur populations in Kashi region of Xinjiang Uyghur Autonomous Region .Methods We selected 1 020 patients with cardiovascular and cerebrovascular diseases , including 220 cases of Han population and 800 cases of Uyghur population .Using gene chip technology to detect CYP 2C19 gene polymorphism , and the genotype distribu-tion and frequencies of CYP2C19 between Han and Uyghur patients were compared .Results The frequency of CYP2C19*1 was 0.6454 in Han, 0.7869 in Uyghur (P<0.05).The frequency of CYP2C19*2 was 0.3273 in Han, and 0.1837 in Uyghur (P <0.05).The homozygous frequencies of strong metabolic type in Han and Uyghur were 42.72% and 62.13%respectively, the heterozygous frequencies of strong metabolic type were 43.64% and 33.13% respectively and the frequencies of poor metabolic phenotype were 13.64%and 4.76%(all P<0.01).Conclusions There is difference in the genotype distribution between Han and Uyghur population of patients with cardiovascular and cerebrovascular diseases in Kashi region of Xinjiang province .Uyghur population has higher frequency distribution in strong metabolic phenotype , but has lower frequency distribution in poor metabolic phenotype .%目的：分析新疆喀什地区汉族、维吾尔族心脑血管疾病患者CYP2C19基因多态性。方法新疆喀什地区的1020例心脑血管疾病患者，其中汉族220例、维吾尔族800例，采用基因芯片技术检测CYP2 C19基因多态性，并对汉族和维吾尔族患者CYP2C19等位基因频率和代谢表型频率进行比较。结果汉族患者CYP2C19*1频率为0．6454，维吾尔族患者为0．7869，两者比较P＜0．05；汉族患者*2频率为0．3273，维吾尔族患者为0．1837，两者比较P＜0．05。汉族、维吾尔族患者代谢表型为强代谢型纯合子频率分别为42．72％、62．13％，两者比较P＜0．01；强代谢型杂合子频率分别为43．64％、33．13％，两者比较P＜0．01；弱代谢型频率分别为13．64％、4．76％，两者比较P＜0．01。结论在新疆喀什地区汉族和维吾尔族心脑血管疾病患者中，CYP2C19的基因型分布具有差异。维吾尔族患者的强代谢基因型高于汉族患者，汉族患者的慢代谢基因型高于维吾尔族患者。