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Interaction of polymorphisms in the CARD15 and CD14 genes in patients with Crohn disease

W Klein1, A Tromm, T Griga

  • 1Abteilung für Humangenetik, Ruhr-Universität, Bochum, Germany. wolfram.klein@ruhr-uni-bochum.de

Scandinavian Journal of Gastroenterology
|August 28, 2003
PubMed

Insights

Genetic variations in CARD15 and CD14 genes interact, increasing Crohn disease (CD) risk. These gene interactions, crucial for lipopolysaccharide recognition, highlight a key factor in CD pathogenesis.

Area of Science:

  • Genetics
  • Immunology
  • Gastroenterology

Background:

  • Variations in the CARD15 gene are associated with Crohn disease (CD) but are not solely responsible for its genetic predisposition.
  • Additional genetic and environmental factors are implicated in the complex pathogenesis of CD.

Purpose of the Study:

  • To investigate potential interactions between the CARD15 and CD14 genes in the context of Crohn disease.
  • To evaluate the role of a specific CD14 promoter polymorphism in conjunction with CARD15 variations in CD susceptibility.

Main Methods:

  • Genotyping of 650 healthy controls and 253 CD patients for a CD14 promoter polymorphism (T/C at -159) using RFLP analysis.
  • Genotyping of CD patients for known CARD15 gene variations (Arg702Trp, Gly908Arg, Leu1007fsinsC).

Main Results:

  • The T allele and TT genotype of the CD14 promoter were significantly more frequent in CD patients carrying at least one CARD15 variation compared to controls (P = 0.02 and P = 0.0002).
  • No significant association between CD14 promoter variations and CD was observed in patients lacking CARD15 variations.

Conclusions:

  • Interactions between the CARD15 and CD14 genes, both involved in lipopolysaccharide recognition, contribute to an increased risk of developing Crohn disease.
  • These gene-gene interactions represent a significant factor in the genetic susceptibility to Crohn disease.
Abstract

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