Association of CD40 gene polymorphisms and immune thrombocytopenic purpura in the adult Egyptian population
Hend N. Ellithy, Sherif M. Yousry, Asmaa Abdel-Aal, Lelian Tawadros, Nouran Momen
Abstract
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: <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.