ABCA1启动子区及7外显子基因突变对汉族人群高密度脂蛋白胆固醇水平的影响  

Effects of two common polymorphisms in the ABCA1 gene on plasma HDL-C levels in Chinese Han people

作　　者：祁莉萍[1] 严晓伟[2] 叶平[1] 党爱民[3] 方全[2] 

机构地区：[1]解放军总医院南楼心血管二科,北京100853 [2]北京协和医院心内科 [3]阜外心血管病医院心内科

出　　处：《中华老年心脑血管病杂志》2010年第5期431-433,共3页Chinese Journal of Geriatric Heart,Brain and Vessel Diseases

摘　　要：目的研究汉族人群ABCA1启动子区-565C/T及7外显子G1051A基因多态性对HDL-C水平的影响。方法应用连接酶检测反应法对519例冠心病患者(冠心病组)及541例同期住院或体检者(对照组)测试-565C/T及G1051A基因型,生化检测HDL-C水平,分析HDL-C水平与不同基因型的关系。结果 -565C/T的CC、CT、TT不同基因型的HDL-C水平分别为(1.19±0.81)mmol/L、(1.14±0.28)mmol/L和(1.12±0.28)mmol/L,无显著差异(P=0.44);G1051A的GG+GA、AA不同基因型的HDL-C水平分别为(1.18±0.61)mmol/L和(1.29±0.27)mmol/L,无显著差异(P=0.52);logistic回归模型分析显示,校正年龄、性别、吸烟后,A等位基因系冠心病保护性因素(OR=0.428,95% CI:0.227～0.603,P=0.009)。结论 ABCA1-565C/T及G1051A 2种单核苷酸多态性与HDL-C水平无相关性;G1051A的A等位基因系冠心病保护性因素。Objectives To study the mutations and genetic characteristics of ABCA1 promoter -565C/T and 7Exon G1051A（R219K） in CAD patients in Chinese Han people,to analyze the as- sociation of HDL-C level with different ABCA1 genotypes. Methods 519 patients with CAD and 541 controls were genotyped for -565C/T,G1051A 7exon. HDL-C level was measured at the same time. Results There were no significant alterations in the HDL-C profile in CC,CT and TT geno- types of the-565C/T polymorphism and in GG＋GA and AA genotypes of the G1051A （P = 0.44） ,though the TT genotype of the -565C/T polymorphism had lower HDL-C and the AA gen- otype of the G1051A polymorphism had higher HDL-C （P = 0.52）. Logistic regression analysis after adjusted for age, sex and smoking revealed that there was significant association between G1051A genotype and CAD,and A allele was a protective factor （OR = 0. 428,95~//00 CI ：0. 227-- 0. 603, P = 0. 009）. Conclusion ABCA1 -565 C/T single nucleotide polymorphism（SNP） and G1051A SNP have no significant association with CAD. These two SNPs were not associated with HDL-C level. The AA genotype may protect against subclinical cardiovascular disease in Chinese Han population.

关 键 词：胆固醇 HDL 突变 冠心病 基因型 多态性 单核苷酸 基因频率 

分 类 号：R541.4[医药卫生—心血管疾病]