β-羟甲基戊二酰辅酶A还原酶基因多态性与冠心病相关性的研究

目的研究汉族人群β-羟甲基戊二酰辅酶A还原酶(HMGCR)基因型和等位基因频率分布的遗传背景,探讨HMGCR多态性与冠心病的相关性。方法采用聚合酶链反应-单链构象多态性分析及测序技术,对湖北地区汉族123例健康人以及117例冠心病病人HMGCR多态性基因型和等位基因频率分布进行分析,研究HMGCR多态性对血脂、脂蛋白和载脂蛋白水平的影响。结果冠心病组内TT/CC(TT+CC)基因型与TT基因型相比,血清TC和LDL-C水平均有显著性差异(P<0·05)。冠心病组与对照组相比,2725A/G位点基因型间血脂、脂蛋白及载脂蛋白水平均无显著性差异(P>0·05)。结论HMGCR基因3089T/C位点基因多态性可能与冠心病存在相关性,而2725A/G位点多态性与血脂水平的相关性不明显。

Study on 3-hydroxy-3-methylglutaryl coenzyme A reductase gene polymorphism and its correlation with coronary heart disease

Objective To investigate the genetic background of distribution of 3-hydroxy-3-methylglutaryl coenzyme A reductase (HMGCR) genotypes and alleles in the Han nationality and correlation between HMGCR polymorphism and coronary heart disease ((CHD).)Methods HMGCR gene polymorphism in 117 CHD cases and 123 controls in the Han nationality was analyzed by PCR-SSCP to study its correlation with serum lipids, lipoproteins and apolipoproteins levels. Results There were significant differences between TC/CC (TC+CC) and TT genotypes frequencies in CHD group for increasing serum TC and LDL-C concentrations (P<0.05). In contrast, for 2725 A/G site, no significant differences were seen in genotype frequencies between cases and controls for plasma lipids, lipoproteins and apolipoproteins levels (P>0.05). Conclusions HMGCR gene 3089 T/C polymorphism could probably be related to CHD, but there was no significant correlation between 2725 A/G polymorphism and serum lipids.