Studying the role of IL-1B genetic polymorphisms in the development of primary immune thrombocytopenia among Egyptian children

• Published in: Gene reports 2023-03, Vol.30, p.101736, Article 101736
• Main Authors: Elsaadany, Zainab Ali, Momen, Nouran N., Elmesawy, Omnia Ebrahim, Elhady, Marwa Abd, Gad, Alaa
• Format: Article
• Language: English
• Subjects: Cytokines; IL-1RA (VNTR); IL-1β-31; IL-1β-511; ITP; Polymorphism
• ISSN: 2452-0144; 2452-0144
• DOI: 10.1016/j.genrep.2022.101736

Immune thrombocytopenic purpura (ITP) is an acquired autoimmune disorder which causes disturbance in the immune homeostasis and self-tolerance. This study aimed at investigating IL-1β-31, IL-1β-511 and IL-1RA (VNTR) genetic polymorphism in children with acute and chronic ITP to investigate their possible role in the pathogenesis of the disease. The current study included 50 ITP patients “25 acute and 25 chronic” and 50 matched related healthy controls. Genotyping was performed by using PCR-RFLP technique. IL-1β-31 genotyping revealed no statistically significant difference between the C/C (wild), T/C or T/T (variants) among acute, chronic patients or the control group. Moreover, IL-1β-511 genotyping revealed no statistically significant difference regarding the T/T (Wild), T/C and C/C (variants) among the three studied groups. There was also no significant difference between IL1RA genotypes or its allelic distribution and the studied groups. Meanwhile, patients harboring wild IL-1β-31 genotype were found to have a significantly lower mean platelet count compared to the other genotypes (P-value = 0.004). Our study results suggest that there is no association between IL-1β-31, IL-1β-511 and IL-1RA (VNTR) genetic polymorphisms and the development of ITP in the Egyptian pediatric group. However, more extensive studies involving larger numbers of patients in addition to interleukin level assessment are recommended. •No statistically significant difference was found between acute, chronic ITP patients and control group regarding IL-1β-31 or IL-1β-511 genotyping.•No significant difference between IL1RA genotypic distribution or allele frequency between the acute, chronic ITP patients or the controls was found.•No association between combined polymorphism of both IL-1B-31, IL-1B-511, and IL-1RA genes and the susceptibility of developing chronicity of ITP in Egyptian children.•Follow up of newly diagnosed ITP patients over several years is recommended to detect any association between IL-1β-31, IL-1β-511, and IL-1RA (VNTR) polymorphisms with disease progression and long-term response to different treatment modalities.•It is also recommended to study other single nucleotide polymorphisms involving IL-1β and IL-1RA (VNTR) genes such as rs 1,143,634 at position +3954 of IL-1β promoter region as well as rs 419598n at position +2018 in exon 2 of the secreted IL-1RA gene which may help in further exploration of disease pathogenesis and prognosis.