Abstract: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 -509C/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 -509C/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 -509C/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-509C/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.