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Crohn's disease is associated with polymorphism of CARD15/NOD2 gene in a Hungarian population

Zsuzsanna Nagy1, Oszkár Karádi, György Rumi

  • 1Department of Immunology and Rheumatology, Medical Faculty, University of Pécs, Irgalmasok utcája 1, 7621 Pécs, Hungary.

Annals of the New York Academy of Sciences
|August 30, 2005
PubMed

Insights

Genetic mutations in the CARD15/NOD2 gene are more prevalent in Hungarian Crohn's disease (CD) patients. Specific mutations, Arg702Trp and Leu1007fsinsC, are linked to earlier disease onset, suggesting their role in CD pathogenesis.

Area of Science:

  • Genetics
  • Immunology
  • Gastroenterology

Background:

  • Crohn's disease (CD) is an immune-mediated disorder influenced by genetic and environmental factors.
  • Mutations in the CARD15/NOD2 gene are implicated in CD pathogenesis, particularly in Caucasian populations.

Purpose of the Study:

  • To determine the allele frequency and clinical significance of three common CARD15/NOD2 mutations in Hungarian CD patients and healthy controls.
  • To investigate the association between specific CARD15/NOD2 mutations and disease characteristics in a Hungarian cohort.

Main Methods:

  • Genotyping of three common CARD15/NOD2 mutations (Arg702Trp, Gly908Arg, Leu1007fsinsC) using RFLP and ARMS techniques.
  • Analysis of demographic and clinical data from 74 CD patients and 107 healthy controls.
  • Statistical correlation of genetic findings with clinical parameters using chi(2) analysis.

Main Results:

  • Overall prevalence of CARD15/NOD2 mutations was significantly higher in Hungarian CD patients (33.78%) compared to controls (16.23%) (P < 0.025).
  • The Arg702Trp and Leu1007fsinsC mutations were more frequent in CD patients, while Gly908Arg showed no significant difference.
  • CARD15/NOD2 mutation carriers experienced an earlier onset of CD by approximately three years.

Conclusions:

  • Carriage of Arg702Trp and Leu1007fsinsC alleles in the CARD15/NOD2 gene is associated with Crohn's disease in the Hungarian population.
  • These findings support the role of CARD15/NOD2 in CD etiopathogenesis.
  • Genotyping of these CARD15/NOD2 mutations may aid in identifying high-risk individuals for Crohn's disease.

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