Transforming growth factor (TGF-β1) gene polymorphisms in Egyptian patients with hepatitis B virus infection

- Polymorphism in TGF-β1gene was studied in HBV infected Egyptian patients.
- TGF-β1-509C/T and ACTG haplotype may act a risk genetic factor to the susceptibility to HBV infection.
- TGF-β1 (− 800G/A, + 788C/T, + 869T/C, + 915G/C) may not have a role in HBV infection.
- TGF-β1 levels are elevated and associated with the risk of chronic hepatitis B.
- We stressed on the importance of TGF-β1 gene promoter polymorphisms in HBV infection.

Transforming growth factor (TGF-β1) plays a potent role in the pathogenesis of Hepatitis B virus (HBV) infection. The capacity of TGF-β1 production was reported to be regulated by genetic polymorphisms. The current study aims to investigate the association between TGF-β1 gene polymorphisms and the chronic HBV infection and the impact of these genetic polymorphisms on TGF-β1 plasma levels. TGF-β1 + 869T/C and + 915G/C were genotyped by amplification mutation refractory system polymerase chain reaction (ARMS-PCR), while TGF-β1 − 800G/A, − 509C/T, and + 788C/T were genotyped by restriction fragment length polymorphism-PCR (RFLP-PCR) in 115 Egyptians with chronic HBV infection and 119 healthy controls. Plasma levels of TGF-β1 were measured by Enzyme linked immunosorbent assay (ELISA). No significant association was demonstrated between TGF-β1 gene polymorphisms and HBV infection except for the TGF-β1-509C/T. A significant increase in the frequency of − 509 TT genotype (P < 0.05) and T allele (P < 0.001) was detected in HBV patients compared to controls. TT genotype (odd ratio (OR = 2.419)) with confidence interval (CI = 1.045-5.597) and T allele (OR = 1.792 with CI = 1.241-2.587) could be considered as risk factors for HBV. ACTG was the most frequent haplotype (P < 0.05) in HBV patients. The significant increase (P < 0.01) in the level of TGF-β1 in the patients with HBV infection was independent of any genotype/haplotype. In conclusion, our preliminary study indicates that TGF-β1-509C/T might play an important role in chronic HBV infection.