Blood Res.  2024;59:8. 10.1007/s44313-024-00011-z.

Cytotoxic T lymphocyte‐associated antigen‐4 (CTLA‑4) gene polymorphisms in a cohort of Egyptian patients with immune thrombocytopenia (ITP)

• Demerdash D
• Saber M
• Ayad A
• Gomaa K
• Morad M

• KMID: 2562547
• DOI: http://doi.org/10.1007/s44313-024-00011-z

Abstract

Background
Immune thrombocytopenia (ITP) is characterized by immune response dysregulations. Cytotoxic T lym- phocyte‐associated antigen‐4 (CTLA‐4) plays a central role in immune checkpoint pathways and preventing autoim- mune diseases by regulating immune tolerance. We aimed to explore the potential association between CTLA-4 gene polymorphisms and ITP as well as study their impact on the response to therapy.
Methods
We investigated two CTLA-4 single‐nucleotide polymorphisms (SNPs; rs: 231775 and rs: 3087243) using real-time PCR as well as the plasma levels of CTLA-4 by ELISA in 88 patients with ITP and 44 healthy participants (HC).
Results
CTLA-4 (rs: 3087243) A > G polymorphism analysis showed most HC had the homozygous AA genotype, which was statistically significant compared to patients with ITP. Plasma levels of CTLA4 were statistically lower in patients with acute ITP. There was no correlation between CTLA-4 (rs: 231775 and rs: 3087243) A/G SNPs were not correlated to the response to all lines of therapy assessed (corticosteroids, thrombopoietin receptor agonists, splenectomy, and rituximab).
Conclusion
CTLA-4 CT 60 A/G may affect the susceptibility of ITP, but both CTLA-4 + 49 A/G and CT60 A/G did not impact the response of patients with ITP to different lines of therapy.

Keyword

ITP; SNPs; Immune thrombocytopenia; Immune checkpoints; CTLA-4