新疆汉族与维吾尔族人群CYP2C19基因多态性分布调查

Survey on genetic polymorphism distribution of CYP2C19 between Han and Uighur population in Xinjiang Uygur Autonomous Region

目的分析新疆地区汉族人群与维吾尔族人群细胞色素P450(CYP)2C19基因多态性,并比较汉族和维吾尔族人群基因表型差异与基因频率分布差异。方法连续入选2010年8月—2013年4月中国西部地区新疆汉族人群386例和维吾尔族人群214例,根据CYP2C19基因多态位点功能代谢分型:分为快代谢基因型(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)。采用基因芯片检测技术对600名无亲缘关系的新疆汉族与维吾尔族人群进行CYP2C19*1、*2、*3基因型的检测。结果快代谢基因型人群、中间代谢基因型人群和慢代谢基因型人群在新疆地区汉族人群分布频率分别为40.1%、44.8%、15.1%;维吾尔族人群分布频率分别为51.4%、42.1%、6.5%。在快代谢基因型人群中2个民族基因型分布差异有统计学意义(P=0.01);在慢代谢基因型人群中2个民族基因型分布差异有统计学意义(P<0.01)。结论在新疆地区汉族、维吾尔族人群中CYP2C19基因型分布有显著民族差异,且快代谢基因型人群中维族明显高于汉族,慢代谢基因型人群中维族明显低于汉族。

Objective To investigate the genotype distribution of cytochrome CYP2C19 in Chinese Han and Uyghur population. Method In this retrospective study a total of 600 patients resided in the Xinjiang Autonomous Region of China, including386 cases of Han population, 214 cases of Uighur population, were enrolled from First Affiliated Hospital of Xinjiang Medical University, Urumqi, People＇s Republic, China, from August 2010 to April 2013. The CYP2C19 ＊ 1, ＊ 2, ＊ 3 genotypes were detected by gene chip detection technology. Results According to the metabolic type of CYP2C19 gene polymorphic functional loci,the CYP2C19 genotypes were divided into 3 types： extensive metabolism genotype （CYP2C19 ＊ 1/＊ 1）, intermediary metabolism genotype （CYP2C19 ~ 1/~ 2 and ＊ 1/＊ 3） and poor metabolism genotype （CYP2C19 ＊2/＊2, ＊ 2/＊ 3 and ＊3/＊3）. In Han population, the distribution frequencies of these three metabolism genotypes were 40.1 ~/00, 44.8 Y00, 15.1% respectively. In Uigur population, the frequencies were 51.4%, 42.1%, 6.5%; Significant differences in the frequencies of metabolism genotypes between the Han and Uigur population were detected in extensive metabolism group （P =0.01） and poor metabolism group （P〈0.01）. Conclusion Compared with Han population, the Uigur population has higher frequency distribution in extensive metabolism phenotype, but has lower frequency distribution in poor metabolism phe notype.