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<p>Interleukin 18 (IL18) induce severe inflammation, promotes Th1 cells and express in the small intestinal mucosa in patients with celiac disease (CeD). Association of promoter region polymorphisms at position 137G &gt; C and 607C &gt; A were reported in autoimmune diseases but sparsely in CeD and in their first-degree relatives (FDRs). A total of 558 children with CeD and their 1565 FDRs were evaluated. About 263 FDRs were anti-tissue transglutaminase antibody (tTG-IgA) positive and out of these, 222 were histopathology positive. Serology negative FDRs served as controls. IL18 gene polymorphism and HLA DQ2 &amp; DQ8 genotypes were assessed by Polymerase Chain Reaction-Sequence Specific Primer (PCR-SSP) method. The most frequent genotype was GC allele of 137G &gt; C polymorphism, being 465 (62.5%), 152 (41.8%) and 705 (33%) in total CeD cases, biopsy proven FDRs and controls respectively. Significant association was observed between tTG-IgA and 137G &gt; C polymorphism in total CeD cases (<i>p</i> = 0.019) and biopsy proven FDRs (<i>p</i> = 0.003). No relationship was observed between Marsh grades and polymorphisms in any analysis group. Association of HLA DQ2 genotype with 137G &gt; C polymorphism (<i>p</i> = 0.032) was observed in total CeD and index cases (<i>p</i> = 0.029). IL18 is a suitable candidate gene and immunogenic marker for CeD. The polymorphisms at position 137G &gt; C indicated a strong association with tTG-IgA and HLA DQ2 genotype. Our study strongly envisaged the involvement of IL18 gene in the susceptibility of CeD.</p>

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Interleukin 18 Gene Promoter Polymorphisms in Children with Celiac Disease and in Their First-Degree Relatives: Is There an Association?

  • 期刊论文

  • 发表日期：

    2026年2月21日

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  • Avinash Lomash,
  • Aastha Bansal,
  • Raghvendra Singh,
  • Praveen Kumar,
  • Vineeta Vijay Batra,
  • Anand Prakash Dubey,
  • Amarender Singh Puri,
  • Rishi Gupta,
  • Sunil Kumar Polipalli,
  • Seema Kapoor

摘要

Interleukin 18 (IL18) induce severe inflammation, promotes Th1 cells and express in the small intestinal mucosa in patients with celiac disease (CeD). Association of promoter region polymorphisms at position 137G > C and 607C > A were reported in autoimmune diseases but sparsely in CeD and in their first-degree relatives (FDRs). A total of 558 children with CeD and their 1565 FDRs were evaluated. About 263 FDRs were anti-tissue transglutaminase antibody (tTG-IgA) positive and out of these, 222 were histopathology positive. Serology negative FDRs served as controls. IL18 gene polymorphism and HLA DQ2 & DQ8 genotypes were assessed by Polymerase Chain Reaction-Sequence Specific Primer (PCR-SSP) method. The most frequent genotype was GC allele of 137G > C polymorphism, being 465 (62.5%), 152 (41.8%) and 705 (33%) in total CeD cases, biopsy proven FDRs and controls respectively. Significant association was observed between tTG-IgA and 137G > C polymorphism in total CeD cases (p = 0.019) and biopsy proven FDRs (p = 0.003). No relationship was observed between Marsh grades and polymorphisms in any analysis group. Association of HLA DQ2 genotype with 137G > C polymorphism (p = 0.032) was observed in total CeD and index cases (p = 0.029). IL18 is a suitable candidate gene and immunogenic marker for CeD. The polymorphisms at position 137G > C indicated a strong association with tTG-IgA and HLA DQ2 genotype. Our study strongly envisaged the involvement of IL18 gene in the susceptibility of CeD.