ObjectivesTo study the relationship between the allele frequencies and genotype distribution of transforming growth factor-beta 1(TGF-β1) gene promoter polymorphisms in Chinese patients with heptocellular carcinoma(HCC),and to analyze the association of the serum levels and genotype of TGF-β1 with HCC.MethodsThe polymorphisms of TGF-β gene,including polymorphisms of TGF-[β1 gene -800G/A、-509C/T,were analyzed by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)methods in 102 patients with HCC and 110 healthy controls,and the serum level of TGF-β1 was determined by enzyme-linked immunosorbent assay (ELISA). ResultsThe HCC group showed significantly higher serum levels of TGF-β1 than control group [(51.06 ± 9.74)μg/L,(22.12 ± 8.67 )μg/L,t=22.884, P＜0.01], The distributions of TGF-β gene -800G/A polymorphisms were not different significantly between HCC group and control group, but TGF-β1 -509C/T gene polymorphism was significantly different. The relative risk suffered from HCC of C allele was 1.822 times of the T allele (OR=1.822,95 ％CI:1.238-2.682,t=22.884,P＜0.01), the serum level of TGF-β1 T allele carriers was significantly higher than that of no carriers [(53.52:±:10.07)μg/L,(43.57±9.89)μ.g/L,t=3.898, P＜0.01]. ConclusionTGF-β1 gene -509C/T polymorphism is associated with HCC, and T allele may be a risk factor for HCC, in which the TGF-β1 T allele carriers may have increased risk by enhancing the TGF-β1 expression in the pathogenesis of HCC.