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Frequency of three common mutations of CARD15/NOD2 gene in Iranian IBD patients

Faramarz Derakhshan1, Nosratollah Naderi, Alma Farnood

  • 1Research Center for Gastroenterology and Liver Disease, Shaheed Beheshti University of Medical Sciences, Tehran, Iran.

Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology
|June 11, 2008
PubMed

Insights

The CARD15/NOD2 gene

Area of Science:

  • Genetics and Immunology
  • Gastroenterology

Background:

  • The CARD15/NOD2 gene (IBD1) on chromosome 16 is linked to Inflammatory Bowel Disease (IBD), particularly Crohn's disease.
  • Three common CARD15 mutations (R702W, G908R, 1007fsinsC) show variable association with Crohn's disease across ethnic groups.

Purpose of the Study:

  • To investigate the frequency of three common CARD15 mutations in Iranian IBD patients.
  • To compare mutation frequencies between Iranian Crohn's disease patients, ulcerative colitis patients, and healthy controls.

Main Methods:

  • Genotyping of 100 ulcerative colitis patients, 40 Crohn's disease patients, and 100 controls using DNA from leukocytes.
  • Polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) were employed to detect R702W, G908R, and 1007fsinsC mutations.

Main Results:

  • The R702W mutation was significantly more frequent in Iranian Crohn's disease patients (p<0.001, OR 19.21) compared to controls.
  • No significant association was found for other CARD15 mutations with Crohn's disease or ulcerative colitis in this population.

Conclusions:

  • The R702W mutation of the CARD15 gene is associated with Crohn's disease in the Iranian population.
  • This finding highlights the potential role of specific CARD15 variants in the pathogenesis of Crohn's disease within this ethnic group.
Abstract

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