内蒙古地区蒙古族人群ABCA1基因69C/T多态性分布特点及其与血脂和冠心病的关系

Detection of Polymorphism of ABCA1 Gene 69C/T and Its Association with Blood Lipids Level and Coronary Heart Disease in Mongolian Population

目的探讨ATP结合盒转运蛋白A1（ATP-binding cassette transporter A1,ABCA1）基因69C/T单核苷酸多态性在内蒙古地区蒙古族人群中的分布特以及其与血脂和冠心病的关系。方法采用聚合酶链反应-限制片段长度多态性方法检测101例蒙古族冠心病病人和102名正常对照组ABCA1基因相应片段的多态性。结果 ABCA1基因69C/T TT基因型和T等位基因频率在冠心病组均显著高于正常对照组（P〈0.05）;经相对危险度分析TT基因型的相对危险度OR=2.698,95%CI为1.408~5.170,P〈0.05,说明TT基因型是冠心病的危险因素。ABCA1基因69C/T TT、TC、CC三种基因各基因型高密度脂蛋白胆固醇（HDL-C）、低密度脂蛋白胆固醇（LDL-C）、总胆固醇（TC）、三酰甘油（TG）比较差异均无统计学意义（P〉0.05）。结论 ABCA1基因69C/T多态性与内蒙古地区蒙古族冠心病病人的遗传易感性相关,TT基因型病人增加冠心病的危险性。

To investigate whether ATP binding cassette transporter A1CABCA1） gene 69C/T single nucleotide polymor-phisms variation was correlated with coronary heart disease（CHD） in Mongolian population of the Inner Mongolia region,and the association of this polymorphism with blood lipids. Methods The target fragments of ABCA1 gene was amplified and analyzed by poly-merase chain reaction（PCR） restriction fragments length polymorphism（RFLP） technique in 203 Mongolian patients with CHD and Mongolian control subjects without CHD. Results The frequency of TT genotype and T allele of ABCA1 69C/T gene was all significantly higher in CHD patients than that in controlsC P 〈0.05）. TT genotype adds ratio was 2.698 （95% C/ ： 1.408 to 5.170, P 〈0.05） .It showed that TT genotype was risk factorsfor CHD accidents by relative risk analysis. There was no significant difference in the levels of high -density lipoprotein cholesterol （HDL-C）,low -density lipoprotein cholesterol （LDL - C）,cholesterol （TC）, triglycerides （TG） among three genotype of 69C/T （TT, TC, CC） gene （ P 〉0.05） .Conclusion ABCA1 gene 69C/T and polymorphism is associ-ated with CHD risk in Mongolian population of the Inner Mongolia region.The TT genotype of the ABCA1 gene C69T polymorphism is associated with increased CHD risk.