CARD15 gene polymorphisms in patients with spondyloarthropathies identify a specific phenotype previously related to Crohn’s disease

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 poly...

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Bibliographic Details
Published in:Annals of the rheumatic diseases 2005-06, Vol.64 (6), p.930-935
Main Authors: Laukens, D, Peeters, H, Marichal, D, Vander Cruyssen, B, Mielants, H, Elewaut, D, Demetter, P, Cuvelier, C, Van Den Berghe, M, Rottiers, P, Veys, E M, Remaut, E, Steidler, L, De Keyser, F, De Vos, M
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
CARD
CARD15
caspase recruitment domain
Crohn Disease - complications
Crohn Disease - genetics
Crohn’s disease
ESSG
European Spondylarthropathy Study Group
Extended Report
Female
Gastroenterology. Liver. Pancreas. Abdomen
Genetic Predisposition to Disease
Genotype
Heterozygote
HLA-B27 Antigen - analysis
Humans
inflammatory bowel disease
Intracellular Signaling Peptides and Proteins - genetics
Male
Medical sciences
Middle Aged
Mutation
Nod2 Signaling Adaptor Protein
Other diseases. Semiology
Pharmaceutical industry
Polymorphism, Restriction Fragment Length
Polymorphism, Single Nucleotide
Prescription drugs
Psoriasis
single nucleotide polymorphism
SNP
Spondylarthropathies - complications
Spondylarthropathies - genetics
spondyloarthropathy
Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
Studies
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Summary: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.
ISSN:0003-4967
1468-2060
DOI:10.1136/ard.2004.028837