The Association of Transforming Growth Factor-β1 (TGF-β1) Gene Polymorphism and Susceptibility to Aplastic Anemia in Egyptian Patients

Abstract

Background: TGF-β1 has been described as an important regulator of hemopoiesis. TGF-β1 polymorphic variants may relate to altering the expression of TGF-β1 and hence its effect on hematopoiesis and possible role in aplastic anemia pathogenesis. Aim: We try in this study to find out the allele distribution of TGF-β1-509 C/T in Egyptian population and hence figure the association of it with the susceptibility to aplastic anemia in Egyptian patients. Methodology: A case control study was designed to assess TGF-β1-509 C/T allele distribution in healthy controls (810 subjects) from six articles that was compared to TGF-β1-509 C/T allele distribution in aplastic anemia patients (90 subjects) from 2/6 articles included in the study. Results: Statistically significant difference was found between the wild (CC) versus mutant (CT/TT) genotypes of TGF-β1 509 C/T mutation in patients and controls. Mutant genotypes are more frequent in the patients when compared to controls (p = 0.017), and TGF-β1 509 C/T mutation is associated with 1.8 times the risk of developing the disease (95% CI: 1.1-2.8). Conclusion: TGF-β1-509 C/T mutation may be associated with risk of development aplastic anemia.