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肝脂酶 (hepaticlipase,HL)对血浆脂蛋白的代谢起重要作用 ,它影响着血浆中高密度脂蛋白 (HDL)的水平以及低密度脂蛋白 (LDL)的种类 ,因此肝脂酶的活性与冠心病的发生具有相关性。肝脂酶基因的单核苷酸多态性 (SNP)与酶的活性相关 ,并影响血浆脂蛋白水平以及冠心病的发生。为研究肝脂酶基因的单核苷酸多态性与中国汉族冠心病的相关性 ,采用聚合酶链反应、变性高效液相色谱及DNA测序等技术对 10 2例经冠状动脉造影确诊的冠心病患者和 84例正常对照的肝脂酶基因 (包括启动子区以及所有外显子 )的SNP进行了研究 ,结果在肝脂酶基因启动子区发现了一未见文献报道的多态位点 ,即- 2T→C转换。经检验 ,对照组和病例组基因型频率的分布符合Hardy Weinberg平衡。冠心病患者组中 - 2C等位基因的携带者 (基因型为TC或CC)显著高于对照组 (5 7.9%versus 4 2 .7% ,χ2 =4 .181,df=2 ,P =0 .0 4 1) ,且冠心病组中 - 2C等位基因的频率显著高于对照组 (χ2 =3.988,df =1,P =0 .0 4 6 ,OR =1.5 8,95 %CI =1.0 1～ 2 .4 7) ;在冠心病组中进一步发现 -2C等位基因与高密度脂蛋白胆固醇水平升高相关 (P <0 .0 5 )。这提示肝脂酶基因的 - 2T→C多态性可能与血浆高密度脂蛋白胆固醇的水平以及冠心病的发生具有相关性。
Hepatic lipase (HL) plays an important role in the metabolism of plasma lipoproteins. It affects the level of high density lipoprotein (HDL) in plasma and the type of low density lipoprotein (LDL). Therefore, The incidence of heart disease is related. Single nucleotide polymorphisms (SNPs) in hepatic lipase genes are associated with enzyme activity and affect plasma lipoprotein levels and the occurrence of coronary heart disease. In order to study the association between single nucleotide polymorphisms of hepatic lipase gene and coronary heart disease in Han Chinese, polymerase chain reaction, denaturing high performance liquid chromatography and DNA sequencing were used to detect 102 cases Heart disease patients and 84 normal controls hepatic lipase gene (including the promoter region and all exons) SNP was studied in the liver lipase gene promoter region found an unreported polymorphic site , Ie - 2T → C conversion. After testing, the control group and case group genotype frequency distribution in line with the Hardy Weinberg equilibrium. The carriers of 2C allele (genotype TC or CC) in patients with coronary heart disease were significantly higher than those in controls (5 7.9% versus 42.7%, χ2 = 4.181, df = 2, P = 0 .0 4 1). The frequency of -2C allele in CHD group was significantly higher than that in control group (χ2 = 3.988, df = 1, P = 0.046, OR = 1.58, 95% CI = 1.0 1 ~ 2.47). In coronary heart disease group, it was further found that -2C allele was associated with an increase in high-density lipoprotein cholesterol (P <0.05). This suggests that - 2T → C polymorphism of hepatic lipase gene may be related to the level of plasma high density lipoprotein cholesterol and the occurrence of coronary heart disease.