载脂蛋白B基因EcoRI和XbaI多态性与血脂异常及血脂水平的关系

目的 分析载脂蛋白B（apolipoprotein B,apo B）基因EcoRI及XbaI位点多态性与新疆石河子地区汉族人群血脂异常的关系.方法 采用聚合酶链式反应-限制性片段长度多态性分析法检测150例血脂异常患者和150例正常对照者的apoB基因EcoRI及XbaI位点多态性,并测定所有样本血清总胆固醇（total cholesterol,TC）,三酰甘油（triglyceride,TG）,低/高密度脂蛋白胆固醇（low/high density lipoprotein cholesterol,LDL-C/HDL-C）,载脂蛋白AI／（apolipoproteinAI,apoAI）和apoB水平.结果 （1）血脂异常组E＋E-/E-E-基因型及E-等位基因含量（分别为37.3%和19%）均高于对照组（分别为12.7%和6.3%）,两组中携带E＋E-/E-E-基因型者TC、TG和LDL-C均高于携带E＋E＋基因型者（P＜0.01）;（2）血脂异常组X＋X-/X＋X＋基因型及X＋等位基因含量（分别为20.7%和11%）均高于对照组（分别为8%和4%）,两组中携带X＋X-/X＋X＋基因型者TC、TG、LDL-C和apoB水平高于同组携带X-X-基因型者（P＜0.05）.结论 apoB基因EcoRI及XbaI位点多态性与新疆石河子地区汉族人群血脂异常有关,E-和X＋等位基因可能是血脂异常的易感危险因素.

Association of EcoRI and XbaI polymorphisms of apolipoprotein B gene with dyslipidemia and lipid levels

Objective To explore the association of apoB gene polymorphisms with dyslipidemia and lipid levels in Xinjiang Shihezi Han Chinese. Methods 150 dyslipidemia patients and 150 normal pople were involved in this study. EcoRI and XbaI polymorphisms of apolipoprotein B was analyzed by PCR-restriction fragment length polymorphism. The levels of plasma total cholesterol, triglyceride, low density lipoprotein cholesterol, high density lipoprotein cholesterol, apoAI and apoB were determined. Results The frequency of E + E -/E - E - genotype and E-Allele(37.3% and 19% ) in dyslipidemia group was significantly higher than that in controls( 12. 7% and 6. 3% ). The levels of TC, TG and LDL-C in the E +E -/E - E - gene type were significantly higher than those of the E + E + gene type in each group ( P ＜0. 01 ). The frequency of X + X -/X + X + genotype and X + Allele( 20. 7% and 1 1% ) in dyslipidemia group was significantly higher than that in controls (8% and 4% ). The levels ofTC, TG, LDL-C and apoB in the X + X -/X + X + gene type patients were significantly higher than those in the X - X - gene type patients in every group ( P ＜ 0. 05 ). Conclusion The EcoRI and XbaI polymorphism of ApoB gene was related to dyslipidemia in population of Xinjiang Shihezi Han Chinese, and the E - and X + Allele may be the genetic risk factors for dyslipidemia.