Objective To investigate the relationship between the-629C/A polymorphism in the promoter region of the CETP gene,serum Levels,lipid metabolism,and coronary heart disease (CHD) among Tianjin Han Chinese population.Methods A hospital-based case-control study was conducted in Tianjin Chest Hospital from 2010 October to 2011 October.The subjects underwent angiography were divided into a case group (n =429) and a control group (n =275).The CETP gene promoter polymorphism at position-629 was determined by restricted fragment length polymorphism using the polymerase chain reaction (PCR-RFLP) method.The serum CETP levels was determined by enzyme-linked immunosorbent assay (ELISA) method.Results (1) The frequencies of-629A allele in Tianjin Han Chinese population was 0.408,significantly lowever than that in other domestic and foreign populations (0.479-0.701,P ＜ 0.05).(2) Variant AA genotype showed reduced CETP levels (P ＞ 0.05) and higher HDL-C levels (P ＜0.05),compared to wild CC genotype.(3) Although there was a negative trend correlation between serum CETP and HDL-C levels,it did not reach statistical significance (P ＞ 0.05).(4) There were significant differences in the frequencies of CETP gene-629 genotype and allele between the two groups (P ＜ 0.001),carries with CA/AA genotype and A allele showed higher risk of CHD,OR (95％ CI) values were 4.627 (3.163-6.769) 、8.779 (4.799-16.059) and 3.173 (2.453-4.104) respectively.There was no relationship between CETP-629C/A polymorphism and coronary artery stenosis degree (x2 =3.588,P =0.166).Conclusion The frequencies of CETP gene-629 genotype and allele in the Tianjin Han Chinese population was significantly different from that in Other domestic and foreign populations.Variant AA genotype,which showed reduced CETP levels and higher HDL-C levels,is paradoxically associated with increased risk of CHD.Thus,CETP gene variation may affect coronary risk apart from the level of HDL-C.%目的 研究天津地区人群胆固醇酯转运蛋白(cholesteryl ester transfer protein,CETP)-629C/A基因多态性、血清CETP含量、脂蛋白代谢及与冠心病发病风险相互之间的关系.方法 采用以医院为基础的成组病例对照研究方法,研究对象来自2010年10月至2011年10月天津市胸科医院心内科住院并接受冠状动脉造影检查的患者,天津地区汉族人群,根据冠状动脉造影结果分为冠心病组429例,正常对照组275例.采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,检测CETP-629C/A基因型,同时采用ELISA方法测定其血清CETP含量,分析-629C/A基因多态性、血清CETP含量、脂蛋白代谢及与冠心病发病风险相互之间的关系.结果 (1)天津地区汉族人群CETP基因-629位点A等位基因频率为0.408,明显低于国内其他地区及国外人群(0.479 ～0.701,P＜0.05).(2)突变型纯合子AA基因型血清CETP浓度低于野生型纯合子CC基因型(P＞0.05),而高密度脂蛋白胆固醇(HDL-C)水平显著增高(P＜0.05).(3)血清CETP浓度与HDL-C水平呈负向变化趋势,其相关性未达到统计学意义(P＞0.05).(4)冠心病组及对照组-629C/A各基因型和等位基因频率分布差异有统计学意义(P＜0.001),携带CA/AA基因型和携带A等位基因个体发生冠心病的危险性增加,OR(95％ CI)值分别为4.627(3.163 ～6.769)、8.779 (4.799 ～ 16.059)和3.173(2.453 ～4.104),调整了年龄、性别、体质指数、吸烟、高血压、糖尿病和血脂代谢障碍等混杂因素后这种关联仍然存在.-629C/A基因多态性与冠状动脉血管病变程度不相关(x2=3.588,P＞0.05).结论 天津地区汉族人群CETP-629C/A基因型和等位基因频率分布与国内其他地区及国外人群有明显差异；-629C→A突变与冠心病的发病风险密切相关,变异基因型(CA和AA)是冠心病发病独立危险因素,-629A等位基因可能是天津地区汉族人群冠心病遗传易感基因；-629C→A突变导致CETP浓度降低、血清HDL-C水平的升高不能完全改变个体对冠心病易患性.
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