IL-4Rα (rs1801275) A>G polymorphism in Egyptian immune thrombocytopenia (ITP) patients: a single center experience.

Autor:	Morad MA; Kasr Al-Ainy Hospital, Faculty of Medicine, Cairo University, Egypt., Doudar NA; Beni-Suef University Hospital, Faculty of Medicine, Beni-Suef University, Egypt., Tawfeek N; Kasr Al-Ainy Hospital, Faculty of Medicine, Cairo University, Egypt., Yacoub M; Kasr Al-Ainy Hospital, Faculty of Medicine, Cairo University, Egypt., Azoz T; Faculty of Medicine, Cairo University, Egypt., El Demerdash D; Kasr Al-Ainy Hospital, Faculty of Medicine, Cairo University, Egypt. Electronic address: dr_eldemerdash@kasralainy.edu.eg.
Jazyk:	angličtina
Zdroj:	Hematology, transfusion and cell therapy [Hematol Transfus Cell Ther] 2024 Oct-Dec; Vol. 46 (4), pp. 352-359. Date of Electronic Publication: 2023 May 08.
DOI:	10.1016/j.htct.2023.03.022
Abstrakt:	Introduction: Chronic immune thrombocytopenia (cITP) is characterized by dysregulation of the immune response. Until recently, the role of Th2-related cytokine gene polymorphisms was unclear. Interleukin 4 (IL-4) exerts its functions by binding to three types of IL-4 receptor (IL-4R) complexes. We aimed to explore the potential association between the gene polymorphism of IL-4Rα and cITP. Methods: We investigated the clinical impact of the IL-4Rα (rs1801275) A>G single nucleotide polymorphism (SNP) using the polymerase chain reaction (PCR) followed by the restriction fragment length polymorphism (RFLP) method in 82 cITP patients and 60 healthy controls (HCs). Results: The IL-4Rα (rs1801275) A>G polymorphism analysis showed the mutant GG genotype was significantly higher in control females (p = 0.033). The wild AA genotype had a higher bleeding score (p = 0.02) in the adulthood onset group. Furthermore, the wild AA genotype in the cITP childhood onset group was significantly associated with the disease severity, as well as the response to treatment (p = 0.040). Conclusion: The mutant G allele is protective against the susceptibility to cITP in the Egyptian females. The IL-4Rα (rs1801275) A>G polymorphism may affect the clinical severity of cITP and treatment response in the Egyptian population. Competing Interests: Conflicts of interest The authors declare that they have no conflicts of interest. (Copyright © 2023 Associação Brasileira de Hematologia, Hemoterapia e Terapia Celular. Published by Elsevier España, S.L.U. All rights reserved.)
Databáze:	MEDLINE
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