CARD15基因突变与强直性脊柱炎无关。

CARD15 gene mutations are not associated with ankylosing spondylitis.

作者信息

van der Paardt M, Crusius J B A, de Koning M H M T, Murillo L S, van de Stadt R J, Dijkmans B A C, Peña A S, van der Horst-Bruinsma I E

机构信息

The Jan van Breeman Institute, Vrije Universiteit Medical Centre, Amsterdam, The Netherlands.

出版信息

Genes Immun. 2003 Jan;4(1):77-8. doi: 10.1038/sj.gene.6363914.

DOI:10.1038/sj.gene.6363914

PMID:12595906

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-kappaB 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.

摘要

据报道，16号染色体短臂上CARD15基因的核苷酸3020处的插入突变（3020insC）和错义突变G2722C与克罗恩病（CD）相关。CARD15基因编码的蛋白质在外周血单核细胞中表达，并调节细胞凋亡和核因子κB的激活，这些因子在炎症中起重要作用。由于克罗恩病（CD）和强直性脊柱炎（AS）是相关疾病，我们研究了CARD15基因中的这些突变是否也与强直性脊柱炎（AS）相关。我们研究了113例无亲缘关系的强直性脊柱炎（AS）患者和152例无亲缘关系的健康对照。在插入突变3020insC和错义突变G2722C的患病率方面，患者和对照之间未发现显著差异，比值比分别为1.36，95%可信区间：0.27 - 6.84，P = 0.70和比值比 = 0.58；95%可信区间：0.18 - 1.94；P = 0.38。我们得出结论，CARD15基因中的插入突变3020insC和错义突变G2722C不参与强直性脊柱炎（AS）的易感性。