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

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。

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

Objectives To study the mutations and genetic characteristics of ABCAl promoter -565C/T and 7Exon G1051A(R219K) in CAD patients in Chinese Han people,to analyze the association of HDL-C level with different ABCAl 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 genotypes 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 genotype 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% CI:0.227- 0.603,P = 0.009).Conclusion ABCAl -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.