人载脂蛋白A5基因c.553G>T多态性与血脂水平的相关性

The association between c.553G>T polymorphism in apolipoprotein A5 gene and level of serum lipid

目的分析中国江苏地区汉族人群载脂蛋白A5c.553G>T基因多态性与血清脂质水平的关系。方法用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术分别检测199例高三酰甘油血症患者和225例健康对照者载脂蛋白A5c.553G>T多态性基因型,计算等位基因频率;用生物化学方法检测研究对象的血脂水平。结果高三酰甘油血症组apoA5c.553位点T等位基因频率显著高于健康对照组(12.56%vs4.67%,P<0.001),TT突变型纯合子血清三酰甘油水平较TG杂合子及GG野生型纯合子人群显著升高(P<0.001),而血清HDL-C水平则呈下降趋势(P=0.011)。结论载脂蛋白A5c.553G>T基因多态性影响血清三酰甘油水平,与高三酰甘油血症存在一定的关联性。

Objective To investigate the association between c. 553G 〉 T polymorphism in apo A5 gene and the level of serum lipid in the Han population of Jiangsu Province, China. Methods Using polymerase chain reaction-restriction fragment length polymorphism （ PCR- RFLP） we analyzed the genotypes and calculated the frequency of alleles in 199 hypertriglyeeridemia （HTG） patients and 225 healthy individuals. The levels of serum lipid profiles were also studied by biochemical methods. Results The frequency of T alleles of c. 553G 〉 T polymorphism in HTG patients was significantly higher than that of the control group （ 12.56% vs 4.67% ,P 〈 0.001 ）. Compared with the wild type GG,TT homozygotes and TG heterozygotes also showed a correlation with increased serum concentration of TG（P 〈 0.001 ） and decreased concentration of HDL-C （ P = 0.011 ）. Conclusions The apoA5 c. 553 G 〉 T polymorphism is associated with the elevation of serum um triglyceride, and is also strongly related to hypertriglyceridemia.