Role of transforming growth factor-β1 in serum and − 509 C>T promoter gene polymorphism in development of liver cirrhosis in Egyptian patients

OBJECTIVES Liver cirrhosis is a condition in which the liver slowly deteriorates and malfunctions due to chronic injury. HCV is one of the major causes of liver fibrosis and ultimate progression to cirrhosis. Transforming growth factor-beta1 (TGF-β1), one of the three isoforms of TGF-β, is a pleiotrophic cytokine that regulates the proliferation and differentiation of cells, embryonic development, wound healing and angiogenesis. This study aimed to evaluate the role of serum TGF-β1 and - 509 C>T promoter gene polymorphism in the development of liver cirrhosis. DESIGN AND METHODS Besides routine liver profiles, serum TGF-β1 was measured in 40 liver cirrhosis patients and 40 controls using ELISA technique. TGF-β1 - 509 C>T promoter gene polymorphism was detected using PCR-RFLP technique. RESULTS TGF-β1 - 509 CT and TT genotype frequencies were significantly higher in the cirrhotic group (52.5%, 25%; respectively) than control group (10%, 7.5%; respectively); OR = 16.238 (95% CI 5.391-48.914, p < 0.05). The - 509 T allele carriers are more prone to develop liver cirrhosis than - 509 C allele carriers; OR = 7.359 (95% CI 3.325-16.288, p < 0.05). Serum TGF-β1 was significantly higher in cirrhotic group (11.79 ± 1.45 ng/ml) than control group (8.67 ± 1.23 ng/ml); p < 0.05. Also serum TGF-β1 was significantly higher in TT genotype than CT and CC genotypes (p < 0.05). A significant positive correlation was observed between serum TGF-β1 and alkaline phosphatase (r = 0.559, p < 0.05); AST (r = 0.573, p < 0.05). A significant negative correlation was observed between serum TGF-β1 and albumin (r = - 0.331, p < 0.05). CONCLUSION There is an association between serum TGF-β1, - 509 CT and TT genotypes of TGF-β1 gene and the higher risk for liver cirrhosis development of liver cirrhosis.