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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

Association of candidate gene variants with clinical features of coronary artery disease in Ningbo Han population
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摘要 目的:探讨CETP-Taq1B,LPL-HindⅢ及LPL-PvuⅡ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AB-CA1-G596A单核苷酸多态性(SNPs).结果:宁波地区汉族人群CETP-Taq1B基因型B1B1,B1B2及B2B2分布频率依次为0.39,0.49及0.11;LPL-HindⅢ基因型H+H+,H+H-及H-H-频率分别为0.58,0.39及0.03;LPL-PvuⅡ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-Taq1B变异升高HDL水平(P=0.01),同时对TG亦有降低趋势(P=0.06);LPL-HindⅢ及PvuⅡ对HDL-C均无显著影响,而LPL-HindⅢ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(P>0.05).结论:冠心病候选基因CETP-Taq1B,LPL-HindⅢ及LPL-PvuⅡ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. AIM: To investigate the effects of varcation of CETP- TaqlB, LPL-HindⅢ and LPL-PvuⅡ genes on plasma lipid metabolism and clinical features of coronary artery disease in Ningbo Han population. METHODS: Totally 186 patients undertaking coronary angiography were recruited from Ningbo 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)-Hindm and LPL-Pvu Ⅱ were genotyped by PCR-RFLP, and verified by gene sequencing. RESULTS: Genotype frequencies of CETP-Taq1 B, LPL-Hind Ⅲ andLPL-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. HDL-C level was siginificantly higher 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-Hind Ⅲ and LPL-Pvu Ⅱ 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-Hind Ⅲ and LPL-Pvu Ⅱ variants were not predictive of the presence of coronary angiographic defined coronary artery disease in Ningbo district Han population ( P 〉 0.05 ), CONCLUSION: CETP- TaqlB, LPL-HindⅢ and LPL-PvuⅡ variant exert effects on plasma HDL-C and TG levels rather than angiographic coronary artery disease.
出处 《第四军医大学学报》 CAS 北大核心 2008年第8期715-718,共4页 Journal of the Fourth Military Medical University
基金 宁波市医学科技计划项目(2003)
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 coronary disease polymorphism, single nucleotide lipids cholesterol ester transfer protein lipoproteinlipase
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