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
Department of Gastroenterology, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium.
Ann Rheum Dis. 2005 Jun;64(6):930-5. doi: 10.1136/ard.2004.028837. Epub 2004 Nov 11.
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.
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.
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.
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.
CARD15 gene polymorphisms clearly identify a subgroup of patients with spondyloarthropathies associated with chronic intestinal inflammation.
脊柱关节病与克罗恩病之间的关联已为人熟知。在与慢性肠道炎症相关的脊柱关节病患者亚组中，已证实存在发展为克罗恩病的风险。
研究克罗恩病的易感基因CARD15基因中报道的多态性是否与脊柱关节病中观察到的临床前期肠道炎症的存在相关。
对104例脊柱关节病患者进行了研究。所有患者在1983年至2004年间均接受了回结肠镜检查及活检。使用限制性片段长度多态性-聚合酶链反应（RFLP-PCR）评估CARD15基因中三种单核苷酸多态性（R702W、G908R和1007fs）的发生率；将这些患者与种族匹配的克罗恩病患者群体和对照组进行比较。
脊柱关节病患者群体中R702W、G908R或1007fs变异的携带频率（20%）与对照组（17%）相似，但在伴有慢性肠道炎症的脊柱关节病亚组中增加至38%。该频率显著高于其他脊柱关节病亚组（p = 0.00)或对照组（p = 0.006），但与克罗恩病组（49%）无差异（无统计学意义）。这表明CARD15基因多态性与慢性肠道炎症发展的较高风险相关。
CARD15基因多态性明确识别出了与慢性肠道炎症相关的脊柱关节病患者亚组。
