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[炎症性肠病:基因型与表型的关系]

[Inflammatory bowel disease: genotype-fenotype relationship].

作者信息

Gómez de la Concha Emilio

机构信息

Académico de Número.

出版信息

An R Acad Nac Med (Madr). 2006;123(2):307-17; discussion 318-20.

Abstract

Inflammatory bowel diseases are complex diseases due to the combination of genetic and environmental factors. Many genes have a limited effect and none is necessary nor sufficient. It has been observed that many of these genes confer susceptibility to specific clinical forms of the disease. So, HLADRB1*0103 confer susceptibility to the pancolitis form of ulcerative colitis and also to Crohn's disease but only with colonic localization. IKBL gene confer susceptibility only to ulcerative colitis, also the pancolitis form and refractary to treatment. NOD2/CARD15 gene confer susceptibility only Crohn's disease with ileal localization with frequent stenosis.

摘要

炎症性肠病是由遗传和环境因素共同作用导致的复杂疾病。许多基因的影响有限,没有一个基因是必需的或充分的。据观察,其中许多基因赋予了对该疾病特定临床形式的易感性。因此,HLADRB1*0103赋予了对溃疡性结肠炎全结肠炎形式以及克罗恩病的易感性,但仅限于结肠定位。IKBL基因仅赋予对溃疡性结肠炎的易感性,也是全结肠炎形式且对治疗难治。NOD2/CARD15基因仅赋予对有频繁狭窄的回肠定位的克罗恩病的易感性。

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