Liu Ling, Guo Zhi-gang, Wang Qi-guang, Liu Sheng-lin, Lai Wen-yan, Tu Yan
Department of Cardiology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China.
Di Yi Jun Yi Da Xue Xue Bao. 2005 Jun;25(6):660-2, 666.
To investigate the effect of -191G/C single nucleotide polymorphisms (SNP) in the promoter region of ATP-binding cassette transporter A1(ABCA1) gene on plasma lipids and its significance in coronary artery disease (CAD).
By polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), -191G/C SNP in the promoter region of ABCA1 gene was analyzed in 204 patients with CAD and 114 control subjects and the distribution of the -191G/C genotypes compared between the two groups and also between different clinical phenotypes of CAD. The clinical indexes associated with CAD were also compared between the patients with the three genotypes of CAD.
The frequency distribution of GG, GC, and CC genotypes significantly differed between CAD group and the control group, and the former group had obvious higher CC genotype frequency and the C allele frequency (P<0.05 and P<0.01, respectively). In CAD patients, the frequency distribution of GG, GC, and CC genotypes varied significantly between those with acute coronary syndrome (ACS) and those with stable angina pectoris (SAP). The CC genotype showed obviously higher frequency in ACS group than in SAP group and the C allele was more frequent in the former group (P<0.05 and P<0.01, respectively). However, no significant difference was noted in the body mass index, total cholesterol, triglyceride, high-density lipoprotein, low-density lipoprotein, or very low-density lipoprotein cholesterols between the three genotypes.
The -191G/C SNP in the promoter region of ABCA1 is associated with increased CAD and the C allele may relate to the stability of CAD without detectable changes in plasma lipids.
探讨三磷酸腺苷结合盒转运体A1（ABCA1）基因启动子区域-191G/C单核苷酸多态性（SNP）对血脂的影响及其在冠状动脉疾病（CAD）中的意义。
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术，分析204例CAD患者和114例对照者ABCA1基因启动子区域-191G/C SNP，比较两组间以及CAD不同临床表型间-191G/C基因型的分布情况。同时比较CAD三种基因型患者的CAD相关临床指标。
CAD组与对照组GG、GC和CC基因型的频率分布存在显著差异，CAD组CC基因型频率和C等位基因频率明显更高（分别为P<0.05和P<0.01）。在CAD患者中，急性冠状动脉综合征（ACS）患者和稳定型心绞痛（SAP）患者的GG、GC和CC基因型频率分布差异显著。ACS组CC基因型频率明显高于SAP组，且前一组C等位基因频率更高（分别为P<0.05和P<0.01）。然而，三种基因型患者的体重指数、总胆固醇、甘油三酯、高密度脂蛋白、低密度脂蛋白或极低密度脂蛋白胆固醇之间无显著差异。
ABCA1基因启动子区域-191G/C SNP与CAD发病风险增加有关，C等位基因可能与CAD的稳定性有关，而血脂无明显变化。
