ABCA1基因V771M多态性分布与冠心病的关系

目的 检测ABCA1基因S／W，确定外显子16中V771M，T774P，K776NS／W发生率，并探讨它们与血脂代谢和冠心病易感性的关系。方法 冠心病112例及健康者（对照组）108例，以PCR—SSCP法及测序法对第16号外显子进行多态性检测，并对其上的V771M，T774P，K776N位点进行限制性酶切。结果 汉族人ABCA1基因V771M住点中仅有w基因型和VM基因型，冠心病组VM基因型的发生率是5．4％，对照组发生率0．9％，冠心痛组发生率高于对照组；冠心病组中w及VM基因型之间比较血脂水平无明显差异（P〉0．05）。结论 汉族人ABCA1基因外显子16中V771M位点M等位基因在不影响血脂水平的情况下增加冠心痛的发生率。

The frequency distribution of V771M SNP of ABCA1 gene and its Assoiation with coronaty artery disease in Chinese population

Objective To study the characteristics of SNPs and the frequency distribution of V771M,T774P and K776N polymorphisms in the sixteenth exon of ABCA1 gene and to investigate its association with lipid metabolism and susceptibility to coronaty artery disease.Methods SNPs in the sixteenth exon in ABCA1 gene were detected by PCR-SSCP and determined by sequencing.The seats of V771M,T774P and K776N in the sixteenth exon in ABCA1 gene were checked by restriction enzyme digestion.Results There were VV,VM genotypes and no MM genotype in the seat of V771M.The frequency of VM genotype was 5.4% in CAD group and 0.9% in control group.The difference of frequency distribution in VM genotypes is significant between CAD group and the control group(P<0.01).However,no significant difference was noted in total cholesterol,triglyceride,high-density lipoprotein cholesterol and low-density lipoprotein cholesterol between the VM and VV genotypes in CAD group(P>0.05).Conclusions The M allele of V771M SNP in the sixteenth exon of ABCA1 is associated with increased CAD without detectable changes in plasma lipids.