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Introduction <p>Immune thrombocytopenia (ITP) is an autoimmune disorder characterized by platelet destruction and impaired production. Genetic factors, including polymorphisms in immune-related genes like CD247, may influence ITP susceptibility and prognosis. This study investigated the association of the CD247 rs858554 polymorphism with ITP among Egyptian children.</p> <p>Subjects and methods.</p> <p>A case–control study included 70 ITP patients (35 acute, 35 chronic) and 70 age-/sex-matched controls. Genotyping for rs858554 was performed using TaqMan® allelic discrimination RT-PCR assay.</p> Results <p>No significant differences were observed in rs858554 genotype or allele frequencies between ITP patients and controls (<i>p</i> &gt; 0.05). The GG genotype was most common (ITP: 41%, controls: 40%), followed by AG (ITP: 46%, controls: 44%) and AA (ITP: 13%, controls: 16%). The G allele predominated in both groups (ITP: 64%, controls: 62%). Subgroup analyses revealed no association with disease classification (acute vs. chronic ITP, <i>p</i> &gt; 0.05) or treatment response (steroid-responsive vs. irresponsive, <i>p</i> &gt; 0.05).</p> Conclusion <p>The CD247 rs858554 polymorphism does not appear to influence ITP susceptibility, disease course, or treatment outcomes in Egyptian children. These findings suggest that other genetic or environmental factors may play more prominent roles in ITP pathogenesis in this population. Further large-scale studies are warranted to explore alternative genetic markers.</p>

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Association of CD247 rs858554 polymorphism with immune thrombocytopenia susceptibility and treatment response in Egyptian children

  • 期刊论文

  • 发表日期：

    2026年4月28日

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  • Manal Mohamed Makhlouf,
  • Aya Mansour Hassan,
  • Yasmeen M. M. Selim,
  • Kareeman Gomaa Mohammed

摘要

Introduction

Immune thrombocytopenia (ITP) is an autoimmune disorder characterized by platelet destruction and impaired production. Genetic factors, including polymorphisms in immune-related genes like CD247, may influence ITP susceptibility and prognosis. This study investigated the association of the CD247 rs858554 polymorphism with ITP among Egyptian children.

Subjects and methods.

A case–control study included 70 ITP patients (35 acute, 35 chronic) and 70 age-/sex-matched controls. Genotyping for rs858554 was performed using TaqMan® allelic discrimination RT-PCR assay.

Results

No significant differences were observed in rs858554 genotype or allele frequencies between ITP patients and controls (p > 0.05). The GG genotype was most common (ITP: 41%, controls: 40%), followed by AG (ITP: 46%, controls: 44%) and AA (ITP: 13%, controls: 16%). The G allele predominated in both groups (ITP: 64%, controls: 62%). Subgroup analyses revealed no association with disease classification (acute vs. chronic ITP, p > 0.05) or treatment response (steroid-responsive vs. irresponsive, p > 0.05).

Conclusion

The CD247 rs858554 polymorphism does not appear to influence ITP susceptibility, disease course, or treatment outcomes in Egyptian children. These findings suggest that other genetic or environmental factors may play more prominent roles in ITP pathogenesis in this population. Further large-scale studies are warranted to explore alternative genetic markers.