载脂蛋白E启动子区基因多态性与冠心病的关联性

Association of apolipoprotein E promoter region polymorphism with coronary heart disease

目的 研究云南汉族、傣族、哈尼族和彝族人群载脂蛋白E（ApoE）基因启动子区rs405509与rs7259620位点多态性的分布频率,比较其在不同民族间的分布差异.方法 选取2014年5月至2015年12月玉溪市人民医院收治的冠心病（CHD）患者245例（CHD组）,对照组选择各民族人群共计704例,测定两组血清三酰甘油（TG）、高密度脂蛋白胆固醇（HDL-C）、低密度脂蛋白胆固醇（LDL-C）、脂蛋白（a）[Lp（a）]含量;酚-氯仿抽提DNA并纯化浓缩DNA,同时采用SNaPshot技术对ApoE rs405509与rs7259620位点基因型进行检测.结果 CHD组患者血清TG[（4.08±2.53）mmol/L]和LDL-C水平[（3.85±0.78）mmol/L]高于对照组[（1.99±1.53）、（2.47±0.79）mmol/L],P〈0.01;且两组间ApoE rs405509位点多态性分布差异有统计学意义（P〈0.05）.多元回归线性分析结果表明,年龄、TG、LDL-C是CHD的独立危险因素;但ApoE基因rs405509位点与rs7259620位点多态性分布在汉、傣、哈尼和彝族正常人群中差异未见统计学意义.结论 ApoE基因启动区rs405509位点多态性分布及年龄、性别、TG、LDL-C是CHD的危险因素,但ApoE基因rs405509位点与rs7259620位点在四个民族中分布无差异,其与四个民族CHD患者的相关性还有待进一步证实.

Objective To investigate the polymorphism and distribution frequency of rs 405509 and rs7259620 loci in apolipoprotein E （ ApoE ） promoter region of Han , Dai, Hani and Yi people in Yunnan , and to compare the distribution differences among different ethnics .Methods A total of 245 patients with coronary heart disease （ CHD ） admitted to Yuxi People ＇ s Hospital from May 2014 to December 2015 were selected as CHD group , and 704 patients from various ethnic populations were enrolled in as control group .Serum levels of triglyceride （ TG） , highdensity lipoprotein cholesterol （ HDL-C）, low density lipoprotein cholesterol （LDL-C） and lipoprotein（a） [Lp（a）] of the two groups were measured;DNA was abstracted by phenol chloroform and then was purified and concentrated ;at the same time, the locus of ApoE rs405509 and rs7259620 was detected by SNaPshot technology .Results The level of serum TG [（4.08 ±2.53）mmol/L] and LDL-C [（3.85 ±0.78）mmol/L] in CHD group were higher than those in control group [（1.99 ±1.53） mmol/L,（2.47 ±0.79） mmol/L], P〈0.01.There were significant differences in ApoE rs 405509 polymorphic distribution between the two groups （ P〈0.05 ） . Multivariate linear regression analysis showed that age , LDL-C and TG were the independent risk factors of CHD;but the polymorphic distribution of the ApoE gene rs 405509 site and rs7259620 was not different among the Han, Dai, Hani and Yi normal populations .Conclusions The polymorphism of rs405509 locus in ApoE promoter region, age, gender, TG and LDL-C are risk factors of CHD, but there is no significant difference in the distribution of ApoE gene rs 405509 locus and rs7259620 locus among four ethnics , and its correlation with the four ethnic CHD patients remains to be further confirmed .