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<p>Celiac disease (CD) is highly prevalent in the wheat eating population of India. While HLA-DQ genotype is the strongest genetic determinant of CD, other genetic factors are likely contribute to genesis of CD. In this case-control study, we determined the frequencies of single nucleotide polymorphisms (SNP) in non-HLA candidate genes that influence the development of CD. DNA obtained from peripheral blood of 376 patients with CD and 736 controls was used for the studies. Fifty-one candidate gene polymorphisms were identified for evaluation. Competitive allele-specific polymerase chain reactions were designed to genotype biallelic SNPs at the selected loci. The genotype and allelotype was determined using KASP genotyping technology in a real-time PCR instrument. Eighteen of the 51 SNPs tested associated strongly with CD. The strongest association was found with the <i>HLA DQ2.5</i> haplotype. <i>HLA DQ2.2</i> haplotype and <i>HLA-DQ8</i> haplotype were also strongly associated with CD. Non-HLA genes that were significantly associated with CD included those associated with T cell receptor signaling and T cell activation - <i>CD247</i>, <i>CD80</i>, <i>CD28</i>, <i>PRKCQ</i>, <i>TNFAIP3</i>, <i>UBASH3</i> and <i>ARHGAP31</i>; genes involved in inflammatory cell migration – <i>CCR3</i> and <i>CCR4</i>; those involved in epithelial protection – <i>GATD3</i>, <i>PARK7</i> and <i>INAVA</i> (<i>C1orf106</i>); and those influencing RNA – <i>DDX6</i> and <i>PUS10</i>. We concluded that the non-HLA genes associated with CD in this Indian population were mostly those associated with molecules involved in the T cell receptor signaling pathway downstream to HLA-DQ2/8, which lead to immune and subsequent inflammatory activation.</p>

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Associations of non-HLA gene polymorphisms with celiac disease in India

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月25日

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  • Balakrishnan S. Ramakrishna,
  • Alka Singh,
  • Pugazhendhi Srinivasan,
  • Giriprasad Venugopal,
  • R. Gayathri,
  • Anam Ahmed,
  • Nidhi Singh,
  • Sangitanjan Dutta,
  • Vineet Ahuja,
  • Govind K. Makharia

摘要

Celiac disease (CD) is highly prevalent in the wheat eating population of India. While HLA-DQ genotype is the strongest genetic determinant of CD, other genetic factors are likely contribute to genesis of CD. In this case-control study, we determined the frequencies of single nucleotide polymorphisms (SNP) in non-HLA candidate genes that influence the development of CD. DNA obtained from peripheral blood of 376 patients with CD and 736 controls was used for the studies. Fifty-one candidate gene polymorphisms were identified for evaluation. Competitive allele-specific polymerase chain reactions were designed to genotype biallelic SNPs at the selected loci. The genotype and allelotype was determined using KASP genotyping technology in a real-time PCR instrument. Eighteen of the 51 SNPs tested associated strongly with CD. The strongest association was found with the HLA DQ2.5 haplotype. HLA DQ2.2 haplotype and HLA-DQ8 haplotype were also strongly associated with CD. Non-HLA genes that were significantly associated with CD included those associated with T cell receptor signaling and T cell activation - CD247, CD80, CD28, PRKCQ, TNFAIP3, UBASH3 and ARHGAP31; genes involved in inflammatory cell migration – CCR3 and CCR4; those involved in epithelial protection – GATD3, PARK7 and INAVA (C1orf106); and those influencing RNA – DDX6 and PUS10. We concluded that the non-HLA genes associated with CD in this Indian population were mostly those associated with molecules involved in the T cell receptor signaling pathway downstream to HLA-DQ2/8, which lead to immune and subsequent inflammatory activation.