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Background <p>Gallstone disease (GSD) is a multifactorial disorder with both genetic and inflammatory influences. Nucleotide-binding oligomerization domain containing protein 1 (<i>NOD1</i>) has an important role in innate immunity and in regulation of gut microbiota and its genetic relationship to GSD is unknown.</p> Aim <p>To explore the association of <i>NOD1</i> gene polymorphism (<i>rs5743336 and rs6958571</i>) and gene expression with gallstone disease.</p> Methods <p>A case-control study was carried out with ultrasound diagnosed gallstone patient and age and sex matched controls. Genotyping of <i>rs5743336</i> and <i>rs6958571</i> was done by PCR-RFLP. <i>NOD1</i> mRNA expression was measured by qRT-PCR. Statistical analysis comprised comparisons of genotype and allele frequencies and logistic regression under various genetic models was performed.</p> Results <p>The <i>rs5743336</i> (GG) genotype was significantly less common in cases than in controls, suggesting a protective effect against GSD (<i>p</i> &lt; 0.05). No significant association was found for <i>rs6958571</i>. In addition, <i>NOD1</i> expression levels were significantly lower in GSD cases than controls (fold change = 0.415443; p-value = 0.038407) and impaired microbial sensitivity may contribute to gallstone pathogenesis.</p> Conclusion <p>This is the first study to find an association between <i>NOD1</i> genetic variation and gallstone disease. The GG genotype of <i>rs5743336</i> is protective, and decreased <i>NOD1</i> expression could be a factor in the development of disease.</p>

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Interplay between NOD1 polymorphisms and gene expression in the pathogenesis of gallstone disease

  • 期刊论文

  • 发表日期：

    2026年1月20日

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  • Sanjana Murali,
  • Shanthi Vijayaraghavan,
  • Rajesh Kumar Shanmugam,
  • Nandini Krishnamurthy,
  • R B Devi Krishna,
  • Pradeep Narahari Ram,
  • Jashwanth Balu,
  • Andrea Mary Francis

摘要

Background

Gallstone disease (GSD) is a multifactorial disorder with both genetic and inflammatory influences. Nucleotide-binding oligomerization domain containing protein 1 (NOD1) has an important role in innate immunity and in regulation of gut microbiota and its genetic relationship to GSD is unknown.

Aim

To explore the association of NOD1 gene polymorphism (rs5743336 and rs6958571) and gene expression with gallstone disease.

Methods

A case-control study was carried out with ultrasound diagnosed gallstone patient and age and sex matched controls. Genotyping of rs5743336 and rs6958571 was done by PCR-RFLP. NOD1 mRNA expression was measured by qRT-PCR. Statistical analysis comprised comparisons of genotype and allele frequencies and logistic regression under various genetic models was performed.

Results

The rs5743336 (GG) genotype was significantly less common in cases than in controls, suggesting a protective effect against GSD (p < 0.05). No significant association was found for rs6958571. In addition, NOD1 expression levels were significantly lower in GSD cases than controls (fold change = 0.415443; p-value = 0.038407) and impaired microbial sensitivity may contribute to gallstone pathogenesis.

Conclusion

This is the first study to find an association between NOD1 genetic variation and gallstone disease. The GG genotype of rs5743336 is protective, and decreased NOD1 expression could be a factor in the development of disease.