CARD15 gene polymorphisms in patients with spondyloarthropathies identify a specific phenotype previously related to Crohn’s disease
- D Laukens1,*,
- H Peeters2,*,
- D Marichal2,
- B Vander Cruyssen3,
- H Mielants3,
- D Elewaut3,
- P Demetter4,
- C Cuvelier4,
- M Van Den Berghe3,
- P Rottiers1,
- E M Veys3,
- E Remaut1,
- L Steidler5,
- F De Keyser3,
- M De Vos2
- 1Department of Molecular Biomedical Research, Ghent University and Flanders Interuniversity Institute for Biotechnology (VIB), Ghent, Belgium
- 2Department of Gastroenterology, Ghent University Hospital
- 3Department of Rheumatology, Ghent University Hospital
- 4Department of Pathology, Ghent University Hospital
- 5Alimentary Pharmabiotic Centre, University College Cork, Cork, Ireland
- Correspondence to:
Dr Harald Peeters
Department of Gastroenterology, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium;
- Accepted 9 November 2004
- Published Online First 11 November 2004
Background: The association between spondyloarthropathy and Crohn’s disease is well known. A risk for evolution to Crohn’s disease has already been shown in the subgroup of patients with spondyloarthropathy associated with chronic gut inflammation.
Objective: To investigate whether the reported polymorphisms in the CARD15 gene, a susceptibility gene for Crohn’s disease, are associated with the presence of preclinical intestinal inflammation observed in spondyloarthropathies.
Methods: 104 patients with spondyloarthropathies were studied. All underwent ileocolonoscopy with biopsies between 1983 and 2004. The prevalence of three single nucleotide polymorphisms in the CARD15 gene (R702W, G908R, and 1007fs) was assessed using restriction fragment length polymorphism–polymerase chain reaction (RFLP-PCR); the patients were compared with an ethnically matched Crohn’s disease population and a control population.
Results: The carrier frequency of R702W, G908R, or 1007fs variants in the spondyloarthropathy populations (20%) was similar to the control population (17%), but increased to 38% in the spondyloarthropathy subgroup with chronic gut inflammation. This frequency was significantly higher than in the other spondyloarthropathy subgroups (p = 0.001) or the control group (p = 0.006), but not different from the Crohn’s disease group (49%) (NS). This indicates that CARD15 polymorphisms are associated with a higher risk for development of chronic gut inflammation.
Conclusions:CARD15 gene polymorphisms clearly identify a subgroup of patients with spondyloarthropathies associated with chronic intestinal inflammation.
- CARD, caspase recruitment domain
- ESSG, European Spondylarthropathy Study Group
- SNP, single nucleotide polymorphism
↵* These authors made an equal contribution to the work