The association of cytokine genes polymorphisms and susceptibility to aplastic anemia in Egyptian patients.

Background And Objective: Aplastic anemia (AA) remains a rare disease, with very interesting pathophysiology that is being investigated for years now. The present study aimed to determine the association between cytokine gene polymorphisms (TGF-β1 -509 C/T, TNF-α -308 G/A, IFN-γ +874 A/T) and susceptibility to AA in Egyptian patients.

Methods: The study included 80 participants subjected to determination of gene polymorphisms on genomic DNA using polymerase chain reaction-restriction fragment length polymorphism assay.

Results: It was found that IFN-γ +874 A/T gene polymorphism is associated with three-fold increased risk of development of AA (odds ratio (OR) 3.116, P = 0.019), while TNF-α -308 G/A gene polymorphism is associated with decreased risk (OR 0.318, P = 0.026). TGF-β1 -509 C/T gene polymorphism showed comparable risk between patients and controls (P = 0.263).

Conclusion: IFN-γ +874 A/T gene polymorphism is associated with the etiology of AA in Egyptian patients.