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<p>Toll-like Receptor 10 (<i>TLR10</i>) represents the sole member of the human toll-like receptor family that inhibits the innate immune responses and inflammation. <i>TLR10</i> has an unknown ligand that has been poorly studied in autoimmune diseases, and their functional and clinical relevance areas are unclear. We aimed to evaluate whether primary antiphospholipid syndrome (PAPS), as an example of autoimmune disease, has an association with <i>TLR10</i> gene polymorphism; c.721&#xa0;A &gt; C and c.2323&#xa0;A &gt; G in an Egyptian population. Genotyping was performed in 45 healthy controls and 65 PAPS female patients using PCR-RFLP followed by sequencing. In the healthy subjects, the <i>TLR10</i> c.721&#xa0;A &gt; C polymorphism under all models except heterozygous and over dominant models (<i>p</i> &lt; 0.025), decreased the susceptibility to PAPS. In contrast, <i>TLR10</i> c.2323&#xa0;A &gt; G polymorphism did not significantly correlate with the predisposition to developing PAPS. The C/G haplotype of <i>TLR10</i> c.721&#xa0;A &gt; C and c.2323&#xa0;A &gt; G polymorphisms were linked to a lower chance of developing PAPS in healthy people (<i>p</i> = 0.005). <i>TLR10</i> c.721&#xa0;A &gt; C variant significantly has a low risk of PAPS in the Egyptian female population, while there is no association of <i>TLR10</i> c.2323&#xa0;A &gt; G polymorphism with PAPS. <i>TLR10</i> c.721&#xa0;A &gt; C and c.2323&#xa0;A &gt; G SNPs are in linkage disequilibrium (D′=48). <i>TLR10</i> c.721&#xa0;A &gt; C and CG haplotype of <i>TLR10</i> c.721&#xa0;A &gt; C and c.2323&#xa0;A &gt; G may have a decreased susceptibility to PAPS.</p>

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Utility and Sensitivity of TLR10 Gene Polymorphism in Early Prediction and Association with Risk of Metabolic Primary Antiphospholipid Syndrome: Cohort Study

  • 期刊论文

  • 发表日期：

    2025年2月11日

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  • Sara H. Mahdy,
  • Nour M. Abd Elkader,
  • Nevine A. Kassim,
  • Said S. Moselhy,
  • Mostafa M. ElHady

摘要

Toll-like Receptor 10 (TLR10) represents the sole member of the human toll-like receptor family that inhibits the innate immune responses and inflammation. TLR10 has an unknown ligand that has been poorly studied in autoimmune diseases, and their functional and clinical relevance areas are unclear. We aimed to evaluate whether primary antiphospholipid syndrome (PAPS), as an example of autoimmune disease, has an association with TLR10 gene polymorphism; c.721 A > C and c.2323 A > G in an Egyptian population. Genotyping was performed in 45 healthy controls and 65 PAPS female patients using PCR-RFLP followed by sequencing. In the healthy subjects, the TLR10 c.721 A > C polymorphism under all models except heterozygous and over dominant models (p < 0.025), decreased the susceptibility to PAPS. In contrast, TLR10 c.2323 A > G polymorphism did not significantly correlate with the predisposition to developing PAPS. The C/G haplotype of TLR10 c.721 A > C and c.2323 A > G polymorphisms were linked to a lower chance of developing PAPS in healthy people (p = 0.005). TLR10 c.721 A > C variant significantly has a low risk of PAPS in the Egyptian female population, while there is no association of TLR10 c.2323 A > G polymorphism with PAPS. TLR10 c.721 A > C and c.2323 A > G SNPs are in linkage disequilibrium (D′=48). TLR10 c.721 A > C and CG haplotype of TLR10 c.721 A > C and c.2323 A > G may have a decreased susceptibility to PAPS.