新疆维、汉民族促酰化蛋白基因301T〉C多态性分布特征及其与血脂的关系

Distributional characteristics of acylation stimulating protein gene 301T 〉 C polymorphism and association with serum triglyceride in Han and Uighur residents in Xinjiang

目的研究促酰化蛋白（ASP）基因多态性在新疆维吾尔族及汉族人群的分布特征其及与血脂的关系。方法采用聚合酶链反应一限制性片段多态性（PCR—RFLP）方法，对527例维吾尔族和407例汉族健康体检者促酰化蛋白基因多态性进行检测。结果ASP基因的三种基因型在汉族组的分布频率分别为：订型74．9．1％，TC型21．3％，CC型3．6％；在维族组的分布频率分别为：TT型47．6％，TC型40．2％，CC型12．1％，两组基因型分布差异具有统计学意义（P〈0．05）。维族组及汉族组中301T〉C基因型亚组间的TG水平的差异有统计学意义，C等位基因携带者（TC＋CC基因型）较TT型有更高的TG水平（P〈0．05）。通过非条件logistic回归校正了性别、年龄、吸烟饮酒史、体质指数、血压、血脂等影响因素后，在维汉两组C等位基因携带者较TT型患高甘油三酯血症的风险明显增高（维族组OR=3．31，95％CI：1．31～8．36；汉族组OR=3．98，95％CI：1．81～8．74）。结论ASP白基因多态性分布频率在新疆维汉民族之间有差异，该多态性与血清TG水平有关，C等位基因可能是高甘油三酯血症的一个危险因素。

Objective To explore the distributional characteristics of acylation stimulating protein （ASP） gene polymorphism and the association with serum lipid level of Chinese Han and Uighur residents in Xinjiang. Method Genotypes of the ASP gene 301T 〉 C polymorphism was detected by polymerase chain reaction and restriction fragment length polymorphism （PCR-RFLP） in 527 Uighur and 407 Han residents. Results The frequencies of TF, TC and CC genotype of ASP gene 301T 〉 C were 74.9% , 21.3% and 3.6% in Han group and 47. 6, 40. 2% and 12. 1% in Uighur group（P 〈0.05）. Serum triglyceride level was significantly higher in C allele carrier （ TC ＋ CC genotype） than in Tr genotype cartier of both Han and Uighur individuals. After adjusting for age, gender, smoking, drinking, BMI and serum total cholesterol, logistic regression analyses revealed that individuals carrying C allele （TC ＋ CC genotype） faced an increased risk of increased serum triglyceride level than individuals carrying Tr genotype in both Han and Uighur individuals （ OR = 3.31, 95 % CI： 1.31 - 8. 36 in Uighur group; OR = 3.98, 95 % CI： 1.81 - 8.74 in Han group）. Conclusion There is a significant difference on mutational frequencies of the ASP gene 301T 〉 C polymorphism between Uighur and Han residents in Xinjiang and C allele carriers face an increased risk for hypertriglyceridemia in both Uighur and Han residents in Xinjiang.