新疆维吾尔族与汉族载脂蛋白A5c．553G〉T基因多态性分布特征及与血脂的关系

Distributional characteristics of apolipoprotein A5 Gene c. 553G 〉 T polymorphism and association with serum triglyceride in healthy Chinese Han and Uighur people

目的研究载脂蛋白A5（apolipoprotein A5，ApoA5）c．553G〉T多态性在新疆维吾尔族（维族）及汉族人群的分布特征及与血脂的关系。方法采用聚合酶链反应-限制性片段多态性（PCR—RFLP）方法，对406例维族和527例汉族健康体检者ApoA5基因c．553G〉T多态性进行检测。结果ApoA5基因c．553G〉T的3种基因型在维族组的分布频率分别为：GG型378例（93．1％），GT型27例（6．7％），TT型1例（0．25％）；在汉族组的分布频率分别为：GG型478例（90．7％），GT型49例（9．3％），TT型无，两组基因型分布差异无统计学意义（P〉0．05）。维族组及汉族组中，T等位基因携带者（TT＋GT基因型）较GG型的甘油三酯（TG）水平高[维族：（2．24±1．13）mmol／L比（1．69±1．12）mmol/L；汉族：（2．41±1．38）mmol／L比（1．69±1．40）mmol／L，P〈0．01]。Logistics回归分析校正了性别、年龄、吸烟饮酒史、BMI、血压、血脂等影响因素后，在维、汉两组T等位基因携带者较GG型患高甘油三酯血症的风险仍有明显增高（维族组：OR3．31，95％C／1．31～8．36；汉族组：OR3.98，95％C／1．81～8．74）。结论ApoA5基因c．553G〉T多态性分布频率在新疆维、汉民族之间没有差异，该多态性与血清TG水平有关，T等位基因是高甘油三酯血症的一个危险因素。

Objective To explore the distribution characteristics of apolipoprotein A5 （ ApoA5 ） gene c. 553G 〉 T polymorphism and the relationship of serum lipid in Chinese Han and Uighur populations in Xinjiang, China. Methods The genotypes of ApoA5 gene c. 553G 〉 T polymorphism were detected in 406 Uighur and 527 Han people by polymerase chain reaction and restriction fragment length polymorphism （PCR-RFLP）. Results The frequencies of GG, GT and TT genotypes of ApoA5 gene e. 553G 〉 T were 378 （93.1%）, 27（6.7% ） and 1 （0. 25% ） patients in Uighurs versus 478 （90.7%） patients, 49（9. 3% ） patients and 0% in Hans. There was no significant difference in the distribution of genotypes between two groups（ P 〉 0. 05 ）. In both groups, individuals with T allele（ TT ＋ GT genotype） had a higher level of serum triglyeeride than those with GG genotype. After adjusting for gender, age, smoking, alcoholism, body mass index, blood pressure and blood lipid, non-conditional logistic regression analyses revealed that individuals with T allele（ TT ＋ GT genotype）in both groups had an elevated risk of HTG versus the GG genotype（ OR = 3.31,95% CI： 1.31 -8. 36 in Uighurs vs OR =3.98, 95% CI： 1.81 -8. 74 in Hans）. Conclusion The mutation of c. 553G 〉 T polymorphism of ApoA5 gene is associated with the level of serum triglyceride in Uighur and Han populations of Xinjiang. And T allele may be a risk factor of hypertriglyceridemia.