中文摘要：

目的探讨转化生长因子β1（TGF-β1）基因功能性多态-509C/T与重庆汉族人群冠心病的关系及其对血脂、血糖、体质指数等冠心病传统危险因素的影响。方法采用聚合酶链反应限制片长多态性（PCR-RFLP）及基因测序的方法检测457例冠心病患者及413例经冠状动脉造影排除冠心病的对照者TGF-β1基因-509C/T多态的基因型,按常规方法测定血脂、血糖、体质指数,并进行分析比较。结果在男性人群中,TGF-β1基因-509C/T多态在冠心病组与对照组的分布无统计学差异（P〉0.05）,该位点与冠心病遗传易感性没有关联;在女性人群中,-509C/T多态在加性和显性遗传模式下均与冠心病发病风险相关（矫正后OR=1.515,95%CI=1.045~2.196,Padditive=0.028;矫正后OR=1.937,95%CI=1.008~3.719,Pdominant=0.047）,TT基因型显著增加个体患冠心病的风险（矫正后OR=2.36,95%CI=1.11~5.03,P=0.026）。在女性冠心病组中与CC基因型携带者相比,CT和TT基因型携带者的总胆固醇（TC）、低密度脂蛋白胆固醇水平和体质指数均增高,高密度脂蛋白胆固醇水平降低,尤以在TT基因型携带者表现明显,上述指标比较均有显著差异（P〈0.05）。结论 TGF-β1基因启动子区功能多态-509C/T与重庆汉族女性冠心病患者的血脂和体质指数水平相关,TT基因型显著增加冠心病的发病风险。

英文摘要：

Aim To explore the association of the functional-509C/T polymorphism in the promoter region of the transforming growth factor-β1（TGF-β1） gene with coronary heart disease（CHD） and its conventional risk factors including body mass index（BMI）,lipid levels of plasma,and blood glucose in Chongqing Han population. Methods The-509 C /T polymorphism of TGF-β1 was genotyped by polymerase chain reaction-restriction fragment length polymorphism methods and DNA sequence technology in 457 CHD patients and 413 controls. The sample was characterized for relevant clinical and biochemical parameters. Results The-509 C /T polymorphism of TGF-β1 was significantly associated with the risk of CHD in females for the additive and dominant genetic models（adjusted OR = 1. 515,95% CI =1. 045 ~ 2. 196,Padditive= 0. 028; adjusted OR = 1. 937,95% CI = 1. 008 ~ 3. 719,Pdominant= 0. 047）,but not in male for all genetic models（P 〉 0. 05）. Female individuals with TT genotype had a 2. 36-fold increased risk of developing CHD（adjusted 95%CI =1.11 ~5.03,P =0.026）. In female CHD patients,both CT and TT genotype carriers were related to the decreased high density lipoprotein cholesterol（ HDLC） levels and increased levels of total cholesterol（ TC）,low density lipoprotein cholesterol（LDLC） and body mass index（BMI） compared with CC genotype carriers,especially in TT genotype carriers reached statistical significance（ all P 〈 0. 05）. Conclusions The functional-509 C /T polymorphism in the TGF-β1 promoter region was associated with the susceptibility to CHD in Chongqing Han women. Our data show that TGF-β1 polymorphism-509 C /T is associated with lipid levels,BMI and CHD in Chongqing Han women. Female individuals with TT genotype have significantly increased the risk of developing CHD.