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Association of CD40 gene polymorphisms and immune thrombocytopenic purpura in the adult Egyptian population

Blood Res. 2022 Aug 3. doi: 10.5045/br.2022.2022057. Online ahead of print.

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: 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.

PMID:35920091 | DOI:10.5045/br.2022.2022057

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