克罗恩病中NOD2/CARD15基因的突变与回盲部切除术相关，并且是再次手术的一个风险因素。

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

作者信息

Büning C, Genschel J, Bühner S, Krüger S, Kling K, Dignass A, Baier P, Bochow B, Ockenga J, Schmidt H H-J, Lochs H

机构信息

Department of Gastroenterology, Hepatology & Endocrinology, Charité, Campus Mitte, Humboldt University, Schumannstrasse 20/21, 10117 Berlin, Germany.

出版信息

Aliment Pharmacol Ther. 2004 May 15;19(10):1073-8. doi: 10.1111/j.1365-2036.2004.01967.x.

DOI:10.1111/j.1365-2036.2004.01967.x

PMID:15142196

Abstract

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.

摘要

背景

最近研究表明，NOD2/CARD15基因内的突变与克罗恩病相关。

目的

研究NOD2/CARD15基因三种常见突变对克罗恩病患者的临床影响。

方法

我们调查了180例克罗恩病患者、70例溃疡性结肠炎患者和97名对照者中NOD2/CARD15基因三种常见突变（Arg702Trp、Gly908Arg、3020insC）的发生率。在克罗恩病患者中，NOD2/CARD15基因突变的发生率与临床和人口统计学参数相关。

结果

克罗恩病患者中，35.6%携带至少一个NOD2/CARD15基因突变的等位基因，而溃疡性结肠炎患者中这一比例为14.3%（P = 0.006），对照者中为15.5%（P = 0.0001）。基因型-表型分析显示，NOD2/CARD15基因突变决定了疾病诊断时的年龄较小（P = 0.03）、病变位于回肠（P = 0.01）以及回盲部切除术（P = 0.0002）。有趣的是，NOD2/CARD15基因突变的患者再次手术切除吻合口的频率明显更高（P = 0.01）。