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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.
Objective: To investigate the effects of CETP-Taq1B, LPL-HindⅢ and LPL-PvuⅡgene mutations on the blood lipid metabolism and the clinical phenotype of coronary heart disease in Han nationality in Ningbo.Methods: A total of 186 Han Chinese patients enrolled in coronary artery angiography (CAG) , Male 75.1%, mean age (61 ± 10) years old.Among them, there were 111 cases in CHD group and 75 cases in control group.The total DNA of peripheral leukocytes was extracted by phenol-chloroform-isopropanol and detected by polymerase chain reaction PCR and restriction fragment length polymorphism (RFLP) combined with sequencing were used to determine the single nucleotide polymorphisms (SNPs) of candidate genes AB-CA1-G596A.Results: The CETP-Taq1B genotypes B1B1, B1B2 and The frequency of B2B2 distribution was 0.39,0.49 and 0.11 respectively. The genotypes H + H +, H + H- and HH- of LPL-HindⅢ were 0.58, 0.39 and 0.03 respectively. The genotypes of PPL, PvuⅡ and P + P- PP-frequencies were 0.38,0.55 and 0.07, respectively. The CETP-Taq1B mutation in Ningbo increased HDL levels (P = 0.01) and TG (P = 0.06) (P = 0.001, P = 0.04). The changes of plasma total cholesterol and LDL in three kinds of SNPs were significantly different (P> 0.05) .Conclusion: The variations of CETP-Taq1B, LPL-HindⅢand LPL-PvuⅡlevels in coronary heart disease patients were not significantly different from those in control subjects Have a certain impact, but the clinical phenotype of coronary heart disease lacked a significant correlation between.