Association of CD40 gene polymorphisms and immune thrombocytopenic purpura in the adult Egyptian population
Hend N. Ellithy1, Sherif M. Yousry2, Asmaa A. Abdel-Aal2, Lelian Tawadros2, Nouran N. Momen2
1Clinical Hematology Unit, Internal Medicine Department, 2Clinical and Chemical Pathology Department, Kasr Al Ainy, Cairo University, Cairo, Egypt
Correspondence to: Hend N. Ellithy, M.D.
Clinical Hematology Unit, Internal Medicine Department, Faculty of Medicine, Kasr Al Ainy, Cairo University, Cairo 4240310, Egypt
Published online: August 3, 2022.
© The Korean Journal of Hematology. All rights reserved.

Background: The pathophysiology underlying primary adult immune thrombocytopenic purpura (ITP) has not yet been identified. However, many mechanisms affect the immune system, causing defective tolerance to self-platelets and megakaryocytes. Cluster of differentiation 40 (CD40) contributes to both humoral and cell-mediated immune responses.
Methods: This case–control study was conducted to detect rs4810485G>T and rs1883832C>T polymorphisms of CD40 in Egyptian patients with persistent/chronic ITP to clarify their possible association with chronic disease evolution. This study included 50 patients with persistent/chronic ITP and 50 healthy controls. Genotyping was performed using the polymerase chain reaction–restriction fragment length polymorphism technique.
Results: Genotyping of rs1883832 and rs4810485 revealed no statistically significant differences between the two groups. However, combined gene polymorphism genotyping showed a statistically significant difference between the two groups (P<0.01).
Conclusion: Our results indicate a strong association between the combined polymorphism of both genes and susceptibility to developing ITP among adult Egyptian patients. Targeting this pathway using novel therapeutic approaches is promising.
Keywords: CD40, rs1883832, rs4810485, Polymorphism, Chronic ITP


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