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Susceptibility to tuberculosis (TB) may be affected by host genetic factors. Elevated levels of transforming growth factor-beta 1 (TGF-β1) were found in plasma of patients with active TB compared with those of healthy contacts. To investigate the association of TGF-β1 gene polymorphisms (C-509T and T869C) and plasma levels with the risk of TB in Hong Kong Chinese adults, a case-control study was carried out on 174 active TB patients and 174 healthy controls matched for age, gender and smoking. Blood samples from 180 blood donors served as another control group. Genotyping was carried out on genomic DNA using polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). Plasma TGF-β1 was measured by commercially available ELISA kit. We found no differences in the distribution of genotypes or alleles of TGF-β1 gene polymorphisms at C-509T and T869C between patients and either group of healthy controls. Patients with TB had elevated plasma TGF-β1 levels compared with healthy controls irrespective of their genotypes (p < 0.001). In conclusion, TGF-β1 gene polymorphism at C-509T and T869C is not associated with TB susceptibility in Hong Kong Chinese adults, but elevated plasma TGF-β1 levels suggests that this cytokine may play a role in the pathogenesis of tuberculosis.