Predictive value of the CARD15 variant 1007fs for the diagnosis of intestinal stenoses and the need for surgery in Crohn's disease in clinical practice:: Results of a prospective study
Predictive value of the CARD15 variant 1007fs for the diagnosis of intestinal stenoses and the need for surgery in Crohn's disease in clinical practice:: Results of a prospective study
复制标题
DOI：
10.1097/01.mib.0000235836.32176.5e
复制
发表时间：
2006-12-01
影响因子：
4.9
通讯作者：
Ochsenkuehn, Thomas
中科院分区：
文献类型：
--
作者：
Seiderer, Julia;Brand, Stephan;Ochsenkuehn, Thomas
背景和目的：克罗恩病(CD)患者的CARD15基因分型在日常临床实践中的诊断和治疗意义尚未得到研究。因此，我们分析了CARD15变异是否是磁共振小肠灌肠检查(MRE)评估的CD患者小肠狭窄的独立预测因素。方法：对80例临床症状提示有小肠狭窄的CD患者进行研究。所有患者均进行了CARD15变异体c.2104C>；T(p.R702W)、c.2722G>；C(p.G908R)和c.3019_3020insC(p.Leu1007fsX1008)的基因分型和小肠Mize检查。结果：40例(50%)患者存在CARD15变异体。MRE发现31例(38%)患者存在小肠狭窄。在40例至少有一个CARD15变异的患者中，25例(62%)通过磁共振血管成像诊断为肠狭窄(优势比[OR]=9.44；可信区间[CI]3.21~27.77；P=0.00028，校正后为Bonferroni)。特别是，1007fs变异的存在与肠道狭窄的风险增加相关(OR=12.00，CI3.47-41.54，P=0.00042，校正后的Bonferroni)。在31名狭窄患者中有21名(68%)需要手术治疗，其中13名患者(62%)携带1007fs变异。结论：在迄今为止进行的最大规模的前瞻性研究中，分析了CARD15变异对CD患者的诊断价值，我们发现1007fs变异是CD患者需要手术的肠道狭窄的强烈预测因素。因此，在临床实践中，基因分型可以成为一种重要的诊断工具，用于识别具有特定诊断和治疗需求的高危患者。此外，MIZE是诊断小肠狭窄的极佳技术。
Background and Aim: The diagnostic and therapeutic relevance of CARD15 genotyping in Crohn's disease (CD) for daily clinical practice has not been investigated so far. We therefore analyzed whether CARD15 variants are independent predictive factors for small bowel stenosis in CD evaluated by magnetic resonance enteroclysis (MRE). On the basis of these findings, the potential implications for patient management were investigated.Methods: Eighty CD patients with clinical symptoms suggestive of small bowel stenosis were included. All patients were genotyped for the CARD15 variants c.2104C > T (p.R702W), c.2722G > C (p.G908R), and c.3019_3020insC (p.Leu1007fsX1008) and examined by MIZE of the small bowel.Results: CARD15 variants were found in 40 (50%) patients. MRE identified 31 (38%) patients with small bowel stenoses. Twenty-five of the 40 (62%) patients with at least one CARD15 variant were diagnosed of intestinal stenosis by MRE (odds ratio [OR] = 9.44; confidence interval [CI] 3.21-27.77; P = 0.00028, Bonferroni corrected). Particularly, the presence of the 1007fs variant was associated with an increased risk of an intestinal stenosis (OR = 12.00, CI 3.47-41.54, P = 0.00042, Bonferroni corrected). Twenty-one of 31 (68%) patients with stenoses required surgical intervention, with 13 of these 21 (62%) patients carrying the 1007fs variant.Conclusion: In the largest prospective study analyzing the diagnostic value of CARD15 variants in CD patients performed so far, we identified the 1007fs variant as strong predictor for intestinal stenoses with need for surgery in CD patients. Genotyping could therefore be an important diagnostic tool in clinical practice for identifying high-risk patients with specific diagnostic and therapeutic needs. Moreover, MIZE is an excellent technique for diagnosing small bowel stenoses.