TY - JOUR
T1 - CARD15 gene mutations are not associated with ankylosing spondylitis.
AU - van der Paardt, M
AU - Crusius, J.B.A.
AU - Koning, M.H.
AU - Murillo, L.S.
AU - van de Stadt, RJ
AU - Dijkmans, B.A.C.
AU - Pena, A.S.
AU - van der Horst - Bruinsma, I.E.
PY - 2003
Y1 - 2003
N2 - 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-κB 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 CARD 15 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. © 2003 Nature Publishing Group All rights reserved.
AB - 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-κB 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 CARD 15 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. © 2003 Nature Publishing Group All rights reserved.
UR - https://www.scopus.com/pages/publications/0038504907
UR - https://www.scopus.com/inward/citedby.url?scp=0038504907&partnerID=8YFLogxK
U2 - 10.1038/sj.gene.6363914
DO - 10.1038/sj.gene.6363914
M3 - Article
SN - 1466-4879
VL - 4
SP - 77
EP - 78
JO - Genes and Immunity
JF - Genes and Immunity
IS - 1
ER -