Mutations in the NOD2/CARD15 gene in Crohn's disease are associated with ileocecal resection and are a risk factor for reoperation

被引:109
作者
Büning, C
Genschel, J
Bühner, S
Krüger, S
Kling, K
Dignass, A
Baier, P
Bochow, B
Ockenga, J
Schmidt, HHJ
Lochs, H
机构
[1] Humboldt Univ, Charite, Dept Gastroenterol Hepatol & Endocrinol, D-10117 Berlin, Germany
[2] Humboldt Univ, Charite, Dept Gastroenterol & Hepatol, D-10117 Berlin, Germany
关键词
D O I
10.1111/j.1365-2036.2004.01967.x
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
Background: Mutations within the NOD2/CARD15 gene have recently been shown to be associated with Crohn's disease. Aims: To investigate the clinical impact of the three common NOD2/CARD15 mutations in patients with Crohn's disease. Methods: We investigated the prevalence of the three common NOD2/CARD15 mutations (Arg702Trp, Gly908Arg, 3020insC) in 180 patients with Crohn's disease, 70 patients with ulcerative colitis and 97 controls. In patients with Crohn's disease, prevalence of NOD2/CARD15 mutations were correlated to clinical and demographical parameters. Results: In Crohn's disease patients, 35.6% carried at least one mutant allele of NOD2/CARD15 mutations compared with 14.3% of patients with ulcerative colitis (P = 0.006) and to 15.5% of controls (P = 0.0001). Genotype phenotype analyses revealed that NOD2/CARD15 mutations determined younger age at disease diagnosis (P = 0.03), ileal disease location (P = 0.01) and ileocecal resections (P = 0.0002). Interestingly, reoperation with resection of the anastomosis was significantly more frequent in patients with NOD2/CARD15 mutations (P = 0.01). Conclusions: Our investigations support the current hypothesis that NOD2/CARD15 mutations are associated with a phenotype of Crohn's disease with younger age at diagnosis, ileal involvement, ileocecal resections and a high risk of postoperative relapse and reoperation. NOD2/CARD15 mutations might therefore be used to identify high risk patients for relapse prevention strategies.
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页码:1073 / 1078
页数:6
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