新疆汉族、维吾尔族急性冠脉综合征患者CYP2C19基因多态性分布

Polymorphism distribution of CYP2C19 gene in Han and Uygur patients with acute coronary syndrome in Xinjiang

目的分析新疆汉族与维吾尔族急性冠脉综合征(ACS)患者细胞色素P450(CYP2C19)基因多态性,比较汉族和维吾尔族ACS患者基因表型差异与基因频率分布。方法连续入选2015-10～2017-10新疆医科大学第一附属医院ACS患者,其中汉族916例、维吾尔族847例,根据CYP2C19基因功能代谢分型:快代谢基因型(CYP2C19*1/*1)、中间代谢基因型(CYP2C19*1/*2和*1/*3)和慢代谢基因型(CYP2C19*2/*2、*2/*3和*3/*3)。根据疾病类型分为非ST段抬高型ACS与ST段抬高型ACS,对1 763名无亲缘关系的汉族与维吾尔族ACS患者应用基因芯片技术进行CYP2C19基因型检测。结果对1 763例患者进行分析,显示基因型分布与年龄及性别无关。快代谢基因型、中间代谢基因型和慢代谢基因型在新疆地区汉族ACS分布频率分别为18. 2%,31. 2%,2. 6%;维吾尔族分别为29. 2%,18. 7%,0. 1%。两民族快代谢基因型分布差异有统计学意义(P <0. 001)。两民族患者中间代谢及慢代谢基因型分布差异有统计学意义(P <0. 001)。非ST段抬高与ST段抬高型ACS患者基因型比较,差异有统计学意义(P <0. 05)。结论新疆汉族、维吾尔族ACS患者CYP2C19基因型分布有差异,快代谢基因型人群中维吾尔族高于汉族,慢代谢基因型人群中维吾尔族低于汉族。

Objective To analyze the polymorphism of cytochrome P450( CYP2 C19) gene in Han and Uygur ACS patients in Xinjiang area and compare the gene phenotypic difference and gene frequency distribution between Han and Uygur population. Methods A total of 1 763 patients with acute coronary syndrome,916 Han and 847 Uygur,were enrolled in this study in the First Affiliated Hospital of Xinjiang Medical University from November 2015 to November 2017. Gene chip technology was used to detect CYP2 C19 genotype in Han and Uygur ACS patients,According to CYP2 C19 gene polymorphism of the metabolic function type,the CYP2 C19 gene was divided into fast metabolism genotype( CYP2 C19* 1/* 1),intermediate metabolism genotype( CYP2 C19* 1/* 2 and * 1/* 3) and slow metabolism genes type( CYP2 C19 * 2/* 2,* 2/* 3 and * 3/* 3). According to disease types,all patients were divided into non-ST segment elevation acute coronary syndrome and ST segment elevation acute coronary syndrome. Results The distribution of CYP2 C19 genotype was not related to age and sex. The frequency of ACS distribution in Han population in Xinjiang area was 18. 15%,31. 19%and 2. 61% in the fast metabolism genotype,intermediate metabolism genotype and slow metabolism genotype,respectively,the frequency in Uygur population was 29. 15%,18. 72% and 0. 17%,respectively. There was a significant difference in the distribution of fast metabolic genotype between Han and Uygur populations( P < 0. 001). There was significant difference in the distribution of the intermediate and slow metabolism genotypes between Han and Uygur groups( P < 0. 001). There was significant difference in the metabolism genotype between non-ST segment elevation ACS and ST segment elevation ACS( P < 0. 05). Conclusion The distribution of CYP2 C19 genotypes of Han and Uygur ACS patients in Xinjiang area is quite different. The frequency of fast metabolism genotype is higher in Uygur population than that in Han population,but the frequency of slow metabolism genotype is lower.