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

Mohamed Abdelkader Morad; Noha A Doudar; Nehad Tawfeek; Maha Yacoub; Taha Azoz; Doaa El Demerdash

doi:10.1016/j.htct.2023.03.022

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

Hematol Transfus Cell Ther. 2023 May 8:S2531-1379(23)00085-8. doi: 10.1016/j.htct.2023.03.022. Online ahead of print.

Authors

Mohamed Abdelkader Morad¹, Noha A Doudar², Nehad Tawfeek¹, Maha Yacoub¹, Taha Azoz³, Doaa El Demerdash⁴

Affiliations

¹ Kasr Al-Ainy Hospital, Faculty of Medicine, Cairo University, Egypt.
² Beni-Suef University Hospital, Faculty of Medicine, Beni-Suef University, Egypt.
³ Faculty of Medicine, Cairo University, Egypt.
⁴ Kasr Al-Ainy Hospital, Faculty of Medicine, Cairo University, Egypt. Electronic address: dr_eldemerdash@kasralainy.edu.eg.

PMID: 37202334
DOI: 10.1016/j.htct.2023.03.022

Abstract

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.

Keywords: IL4; Immune thrombocytopenic purpura; Th2 cells, Cytokine receptor.