广西黑衣壮族人群微粒体甘油三酯转移蛋白基因多态性与血脂水平的关系

目的探讨广西黑衣壮族人群微粒体甘油三酯转移蛋白基因多态性（MTP-493G／T）与血脂水平的关系。方法采用整群抽样方法对500名7～83岁黑衣壮族人群的血压、身高、体重、体重指数、血脂及载脂蛋白进行测定;用聚合酶链反应结合等位基因特异性寡核苷酸探针点杂交法检测MTP-493G／T等位基因及其基因型分布频率;用聚合酶链反应产物直接测序法进行验证。并将其结果与当地的500名汉族人群作比较。结果（1）黑衣壮族人群MTP-493 G和T等位基因的频率分别为0．74和0．26,GG、GT和TT基因型频率分别为0．58（289／500）、0．33（166／500）和0．09（45／500）;汉族人群G和T等位基因的频率分别为0．73和0．27,GG、GT和TT基因型频率分别为0．56（281／500）、0．34（172／500）和0．09（47／500）,两族人群间比较,差异无统计学意义。（2）TT基因型个体的总胆固醇、甘油三酯、低密度脂蛋白-胆固醇（LDL-C）和载脂蛋白B水平明显高于GG和GT基因型个体（P〈0．05或P〈0．01）,但GG和GT基因型个体比较,差异无统计学意义。3种基因型个体的高密度脂蛋白-胆固醇和载脂蛋白A1水平比较,差异也无统计学意义。结论广西黑衣壮族人群存在MTP-493G／T单碱基突变,但G和T等位基因以及GG、GT和TT基因型分布频率与汉族人群比较,差异无统计学意义。TT基因型个体与总胆固醇、甘油三酯、LDL-C和载脂蛋白B水平升高有关。

Relationship between the polymorphism of microsomal triglyceride transfer protein gene and the level of serum lipids in Guangxi Heiyi Zhuang population

Objective To investigate the relationship between the polymorphism of microsomal triglyceride transfer protein gene (MTP-493G/T) and the level of serum lipids in Guangxi Heiyi Zhuang population. Methods A total of 500 people of Heiyi Zhuang nationality, 272 males and 228 females, aged 7-83, were surveyed by cluster sampling. Blood pressure, height, weight, serum lipid and apolipoprotein levels were measured, and both body surface areas and body mass index were calculated. The genotype and allele of MTP-493G/T were determined by polymerase chain reaction combined with allele-specific oligonucleotide (PCR-ASO) hybridization method, and then confirmed by direct sequencing. The results were compared with those in 500 matched people of Han nationality who also live in that district. Results (1) The frequencies of G and T allele were 0.74 and 0.26 in Heiyi Zhuang people, and 0.73 and 0.27 in Han people respectively. The frequencies of GG, GT and TT genotypes were 0.58 (289/500), 0.33 (166/500) and 0.09 (45/500) in Heiyi Zhuang, and 0.56 (281/500), 0.34 (172/500) and 0.09 (47/500) in Han people respectively. There were no significant differences of G/T allele and genotype frequencies between Heiyi Zhuang and Han people. (2) The levels of total cholesterol, triglyceride, low-density lipoprotein cholesterol, and apolipoprotein B in TT genotype were significantly higher than those in GT or GG genotype, but there were no significant differences of them between the GG and GT genotypes. The levels of high-density lipoprotein cholesterol and apolipoprotein A1 were not significantly different among the three genotypes. Conclusion The frequencies of allele and genotype of MTP-493G/T are not significantly different between the Heiyi Zhuang and Han populations. But the levels of total cholesterol, triglyceride, low-density lipoprotein cholesterol, and apolipoprotein B in the TT genotype are significantly higher than those in the GT or GG genotype in both nationalities.