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CARD15/NOD2 polymorphisms do not explain concordance of Crohn's disease in Swedish monozygotic twins

J Halfvarson1, F Bresso, M D'Amato

  • 1Division of Gastroenterology, Department of Internal Medicine, Orebro University Hospital, 701 85 Orebro, Sweden. jonas.halfvarson@orebroll.se

Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
|July 9, 2005
PubMed

Insights

Cardiovascular disease (CVD) risk is influenced by genetic factors, including CARD15/NOD2 polymorphisms. These variants are associated with Crohn's disease, a condition with high concordance in monozygotic twins.

Area of Science:

  • Genetics and Molecular Biology
  • Gastroenterology
  • Twin Studies

Background:

  • CARD15/NOD2 polymorphisms are known risk factors for Crohn's disease.
  • Monzygotic twins exhibit high concordance for Crohn's disease and its phenotype.

Purpose of the Study:

  • To investigate the role of CARD15/NOD2 polymorphisms in explaining Crohn's disease concordance in Swedish monozygotic twins.
  • To assess the frequency of specific CARD15/NOD2 variants in concordant and discordant twin pairs.

Main Methods:

  • Study included 29 monozygotic twin pairs with Crohn's disease (9 concordant, 20 discordant) and 192 healthy controls.
  • Genotyping focused on CARD15/NOD2 variants: Arg702Trp, Gly908Arg, and Leu1007fsinsC.

Main Results:

  • CARD15/NOD2 mutations were identified in 13% of affected twins, with a total allele frequency of 6.6%.
  • Only 2 of 9 concordant twin pairs carried CARD15/NOD2 variants; the remaining seven were wild-type.
  • Allele frequency was higher in concordant (11.1%) versus discordant twins (2.5%), though not statistically significant (p=0.06).

Conclusions:

  • CARD15/NOD2 polymorphisms contribute to Crohn's disease concordance in monozygotic twins but do not solely explain it.
  • Other genetic factors are likely involved in Crohn's disease concordance in the Swedish population.
  • The low prevalence of these variants suggests reduced importance in Northern European populations.
Abstract

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