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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.