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CARD15 gene polymorphisms in patients with spondyloarthropathies identify a specific phenotype previously related to

D Laukens1, H Peeters, D Marichal

  • 1Department of Gastroenterology, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium.

Annals of the Rheumatic Diseases
|November 13, 2004
PubMed

Insights

Genetic variations in the CARD15 gene are linked to chronic gut inflammation in patients with spondyloarthropathy. These CARD15 polymorphisms identify individuals at higher risk for developing inflammatory bowel disease, including Crohn's disease.

Area of Science:

  • Genetics
  • Gastroenterology
  • Immunology

Background:

  • Spondyloarthropathy is frequently associated with Crohn's disease.
  • Patients with spondyloarthropathy and chronic gut inflammation show an increased risk of developing Crohn's disease.

Purpose of the Study:

  • To investigate the association between CARD15 gene polymorphisms and preclinical intestinal inflammation in spondyloarthropathy patients.
  • To determine if CARD15 variants, known susceptibility factors for Crohn's disease, are present in spondyloarthropathy patients with gut inflammation.

Main Methods:

  • Studied 104 patients with spondyloarthropathies undergoing ileocolonoscopy and biopsies.
  • Assessed prevalence of three CARD15 single nucleotide polymorphisms (R702W, G908R, 1007fs) using RFLP-PCR.
  • Compared spondyloarthropathy patients with Crohn's disease and control populations.

Main Results:

  • CARD15 variant carrier frequency was 20% in spondyloarthropathy patients, similar to controls (17%).
  • Frequency increased to 38% in spondyloarthropathy patients with chronic gut inflammation, significantly higher than controls (p=0.006).
  • This frequency was not significantly different from Crohn's disease patients (49%).

Conclusions:

  • CARD15 gene polymorphisms are associated with an elevated risk of developing chronic gut inflammation.
  • These genetic markers can identify a specific subgroup of spondyloarthropathy patients with chronic intestinal inflammation.
  • Findings suggest CARD15 plays a role in the inflammatory processes linking spondyloarthropathy and Crohn's disease.
Abstract

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