宁波地区汉族人群冠心病候选基因变异及其临床的关联性_临床医学论文.docVIP

宁波地区汉族人群冠心病候选基因变异及其临床的关联性_临床医学论文 宁波地区汉族人群冠心病候选基因变异及其临床的关联性_临床医学论文 【摘要】 目的: 探讨CETP，LPL及LPL基因变异对宁波地区汉族人群血脂代谢及冠心病临床表型的影响. 方法: 入选宁波地区行冠状动脉造影（CAG）检查的汉族人群186例，男性75.1%,平均年龄(61±10)岁. 其中冠心病组111例，对照组75例. 采用苯酚氯仿异丙醇抽提外周血白细胞全基因组DNA，通过聚合酶链式反应（PCR）及限制性片段长度多态性（RFLP）结合测序方法确定候选基因ABCA196A单核苷酸多态性（SNPs）. 结果: 宁波地区汉族人群CETP基因型B1B1，B1B2及B2B2分布频率依次为0.39，0.49及0.11；LPL基因型H+H+，H+H-及H-H- 频率分别为0.58，0.39及0.03；LPL基因型P+P+，P+P-及P-P- 频率分别为0.38，0.55及0.07. 宁波地区CETP变异升高HDL水平（P=0.01），同时对TG亦有降低趋势（P=0.06）；LPL及PvuⅡ对HDL均无显著影响，而LPL及PvuⅡ基因变异均显著降低血浆TG水平（P=0.001，P=0.04）；3种SNP对血浆总胆固醇及LDL均无显著影响. 冠心病与对照组之间上述3种变异基因型频率分布均无显著性差异（Pgt;0.05）. 结论: 冠心病候选基因CETP，LPL及LPL变异对血脂代谢产生一定的影响，但与冠心病临床表型之间缺乏显著性关联. 【关键词】 冠状动脉疾病；多态性，单核苷酸；脂类；胆固醇酯转运蛋白；脂蛋白脂酶 【Abstract】 AIM: To investigate the effects of varcation of CETPingbo district, including 111 patients with coronary artery disease (CAD) and 75 controls. Male subjects accounted for 75.1% and aged （61±10） years. The DNA was extracted from peripheral white blood cells by proteinase K digestion, phenol and chloroform extraction as well as isopropanol precipitation. The single nucleotide polymorphisms (SNPs) of cholesterol ester transfer protein (CETP)Taq1B, Lipoprotein Lipase (LPL)HindⅢ and LPLPvuⅡ were genotyped by PCRRFLP, and verified by gene sequencing. RESULTS: Genotype frequencies of CETPTaq1B, LPLHindⅢ and LPLPvuⅡ variants were 0.39，0.49 and 0.11 for B1B1, B1B2 and B2B2, 0.58, 0.39 and 0.03 for H+H+, H+H- and H-H-, 0.38, 0.55 and 0.07 for P+P+, P+P- and P-P-, respectively. HDLer in CETPB1B1 carriers than in B2B2 carriers (P=0.01), while TG level had a trend of decrease (P=0.06). SNPs of LPLHindⅢ and LPLPvuⅡ predicted plasma TG level (P=0.001 and P=0.04). Three SNPs were not significantly associated with the plasma total cholesterol and LDLC levels. However, CETPTaq1B, LPLHindⅢ and LPLPvuⅡ variants were not predictive of the presence of coronary angiographic defined coronary artery disease in Ningbo district Han population (Pgt;0.05). CONCLUSION: CETPTaq1B, LPLHindⅢ