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

目的 研究载脂蛋白A5(apolipoproteinA5,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:OR 3.31,95％ CI 1.31～8.36;汉族组:OR 3.98,95％ CI 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.

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

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 c.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 triglyceride 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.