124例冠心病患者三磷酸腺苷结合盒转运体A1基因启动子区-477CT单核苷酸多态性分析

目的 研究三磷酸腺苷结合盒转运体A1基因启动子区-477C/T单核苷酸多态性与血浆高密度脂蛋白胆固醇和冠心病的关系。方法 用聚合酶链反应限制片长多态性检测124例冠心病患者和111例正常人的三磷酸腺苷结合盒转运体A1基因启动子区-477位点基因型，并比较基因型在冠心痛组与正常人组间、冠心痛组中不同临床表现型之间分布的差异性及三种基因型与冠心痛相关临床指标的关系。结果 TT基因型及T等位基因在冠心病组中的分布频率明显高于正常人组（P〈0．05和P〈0．01）。急性冠状动脉综合征组，TT基因型及T等位基因明显高于稳定型心绞痛组（P〈0．05和P〈0．01）。多支病变组TT基因型明显高于单支病变组（P〈0．05）。在冠心病组中，TT基因型血浆高密度脂蛋白胆固醇水平明显低于CC基因型（P〈0．001）。结论 三磷酸腺苷结合盒转运体A1基因启动子区-477C／T单核苷酸多态性可显著影响中国冠心痛患者血浆高密度脂蛋白胆固醇水平，而且与冠状动脉病变程度及冠心病严重程度相关。

Analysis of Single Nucleotide Polymorphism (SNP) in Promoter Region of ATP Binding Cassette Transporter (ABCA1) Gene in 124 Patients with Coronary Heart Disease

Aim To explore the effects of -477C/T single nucleotide polymorphism (SNP) in promoter region of ATP binding cassette transporter A1 (ABCA1) gene on plasma levels of high density lipoprotein cholesterol (HDLC) and its relationship with coronary heart disease (CHD). Methods -477C/T genotypes in promoter region of ABCA1 gene was detected in 124 CHD individuals and 111 healthy individuals by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), and distribution of the -477C/T genotypes was compared between CHD group and healthy group, and also between different CHD clinical situations. The clinical indexes associated with CHD were also compared among the three genotypes. Results The higher proportion of the TT genotype and T allele was verified in CHD group than that in healthy group (P<0.05 and P<0.01). In CHD group, the higher proportion of the TT genotype and the T allele was further affirmed in ACS group than that in SAP group (P<0.01). The proportion of the TT genotype in multi lesions group was higher than that in single lesion group (P<0.05). The plasma levels of HDLC were differed significantly between the TT genotype and the CC genotype(P<0.001)in CHD group. Conclusions The plasma levels of HDLC may be influenced by the -477C/T SNP in the promoter region of ABCA1 gene in CHD group. The -477C/T SNP in the promoter region of ABCA1 gene may associate with the severity of coronary atherosclerosis and CHD.