Brief Communication
Genes and Immunity (2003) 4, 77–78. doi:10.1038/sj.gene.6363914
CARD15 gene mutations are not associated with ankylosing spondylitis
M van der Paardt1, J B A Crusius2, M H M T de Koning1, L S Murillo2, R J van de Stadt1, B A C Dijkmans1,4, A S Peña2,3 and I E van der Horst-Bruinsma4
- 1The Jan van Breemen Institute, Vrije Universiteit Medical Centre, Amsterdam, The Netherlands
- 2The Laboratory of Immunogenetics, Vrije Universiteit Medical Centre, Amsterdam, The Netherlands
- 3The Department of Gastroenterology, Vrije Universiteit Medical Centre, Amsterdam, The Netherlands
- 4The Department of Rheumatology, Vrije Universiteit Medical Centre, Amsterdam, The Netherlands
Correspondence: IE van der Horst-Bruinsma, MD, PhD, Vrije Universiteit Medical Centre, PO Box 7057, 1007 MB Amsterdam, The Netherlands. E-mail: secr.reumatologie@vumc.nl
Abstract
An insertion mutation at nucleotide 3020 (3020insC) and a missense mutation G2722C in the CARD15 gene on chromosome 16p have been reported to be associated with Crohn's disease (CD). The protein encoded by the CARD15 gene is expressed in peripheral monocytes and regulates apoptosis and NF-
B activation, factors which play an important role in inflammation. Since CD and ankylosing spondylitis (AS) are interrelated disorders, we have investigated whether these mutations in the CARD15 gene are also associated with AS. We studied 113 unrelated AS patients and 152 unrelated healthy controls. No significant differences were found between patients and controls in the prevalence of the insertion 3020insC mutation and the G2722C missense mutation, OR = 1.36, 95% CI: 0.27–6.84, P = 0.70 and OR = 0.58; 95% CI: 0.18–1.94; P = 0.38, respectively. We conclude that the insertion 3020insC mutation and the G2722C missense mutation in the CARD15 gene are not involved in the susceptibility to AS.
Keywords:
ankylosing spondylitis, CARD15, mutation
