Mohamed Ragab Seham, Moustafa Abo ElFotoh Wafaa, Ahmed El-Hawy Mahmoud, Abdelfatah Badr Eman, Khairat Ali Mostafa Saara, El-Sayad Abd El-Hamid Mai
Pediatrics Department, Faculty of medicine, Menoufia University, Shebin Elkom, Menoufia, Egypt.
Biochemistry Department, Menoufia University, Shebin Elkom, Menoufia, Egypt.
Clin Exp Pediatr. 2024 Sep;67(9):465-473. doi: 10.3345/cep.2024.00577. Epub 2024 Jul 24.
The pathophysiology and susceptibility of children to primary immune thrombocytopenia (ITP) are linked to polymorphisms of the interleukin (IL)-1B and IL-1 receptor (IL-1R) antagonist genes.
To investigate the association between the susceptibility and severity of primary ITP in children and the IL-1B and IL-1R antagonist gene polymorphisms.
This comparative case-control study was conducted at the Menoufia University Hospital Hematology and Oncology Unit, Pediatric Department, between August 2022 and September 2023. The children were divided into patients (28 boys, 22 girls) who received hospital and outpatient clinic care and controls (50 healthy age- and sex-matched children).
The mutant homozygous GG genotype and mutant G allele of rs16944 of the IL1B gene were considerably greater in patients than in controls (P<0.001). Furthermore, the mutant homozygous II/II genotype and heterozygous I/II genotype of the IL-1R antagonist gene were considerably greater in the case versus control group. The mutant II allele was significantly more prevalent in patients versus controls (P<0.001).
IL-1B and IL-1R antagonists may have a major impact on the development of immune thrombocytopenia. Furthermore, we found a relationship between IL-1B and IL-1R antagonist gene polymorphisms and the etiology of and children's susceptibility to primary immune thrombocytopenia.
儿童原发性免疫性血小板减少症（ITP）的病理生理学及易感性与白细胞介素（IL）-1B和IL-1受体（IL-1R）拮抗剂基因的多态性有关。
探讨儿童原发性ITP的易感性和严重程度与IL-1B和IL-1R拮抗剂基因多态性之间的关联。
本比较病例对照研究于2022年8月至2023年9月在梅努菲亚大学医院儿科血液学和肿瘤学部进行。将儿童分为接受住院和门诊治疗的患者（28名男孩，22名女孩）以及对照组（50名年龄和性别匹配的健康儿童）。
患者中IL1B基因rs16944的突变纯合子GG基因型和突变G等位基因显著高于对照组（P<0.001）。此外，IL-1R拮抗剂基因的突变纯合子II/II基因型和杂合子I/II基因型在病例组中显著高于对照组。突变的II等位基因在患者中的患病率显著高于对照组（P<0.001）。
IL-1B和IL-1R拮抗剂可能对免疫性血小板减少症的发生有重大影响。此外，我们发现IL-1B和IL-1R拮抗剂基因多态性与儿童原发性免疫性血小板减少症的病因及易感性之间存在关联。
