CARD15/NOD2 gene variants are associated with familially occurring and complicated forms of Crohn's disease
CARD15/NOD2 gene variants are associated with familially occurring and complicated forms of Crohn's disease
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DOI：
10.1136/gut.52.4.558
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发表时间：
2003-04-01
期刊：
影响因子：
24.5
通讯作者：
Kontula, K
中科院分区：
文献类型：
--
作者：
Hehliö, T;Halme, L;Kontula, K
背景资料：半胱天冬酶激活募集结构域15/核苷酸寡聚化结构域2的变体CARD 15/NOD 2基因与克罗恩病（Crohn's disease，CD）的易感性相关。我们的目的是评估CARD 15变体R702 W，G908 R，和1007 fs），并寻找CARD 15变异与1131）家族性形式发生之间的可能关联。或复杂形式的CD。患者和方法：我们调查了198名散发性CID患者、46名家族性CD先证者、27名来自混合IBD家族的CD先证者、99名无关的溃疡性结肠炎（UC）患者和300名对照个体的CARD 15基因变异体R702 W、G908 R和1007 fs的发生。在CD患者中，这些多态性的罕见变异的等位基因频率分别为3.3%、0.6%和4.8%。健康对照组的相应频率分别为1.8%、0%和1.7%（共3.5%）（8.7% v3.5%; P
Background: Variants of the caspase activating recruitment domain 15/nucleotide oligomerisation domain 2 (CARD15/NOD2) gene have been associated with susceptibility to Crohn's disease (CD).Aim: Our aim was to evaluate the allele frequencies of the CARD15 variants R702W, G908R, and 1007fs in Finnish inflammatory bowel disease (1131)) patients and to search for possible associations between CARD 15 variants and occurrence of familial forms of 1131) or complicated forms of CD. Patients and methods: We investigated 198 sporadic CID patients, 46 probands with familial CD, 27 CD probands from mixed IBD families, 99 unrelated patients with ulcerative colitis (UC), and 300 control individuals for the occurrence of the CARD 15 gene variants R702W, G908R, and 1007fs.Results: In CD patients, the allele frequencies for the rare variants of these polymorphisms were 3.3%, 0.6%, and 4.8% (total 8.7%), and the corresponding frequencies in healthy controls were 1.8%, 0%, and 1.7% (total 3.5%) (8.7% v 3.5%; p