Michail Sonia, Bultron Gilberto, Depaolo R William
The University of Southern California, Children's Hospital of Los Angeles, Los Angeles, CA, USA.
Appl Clin Genet. 2013 Jul 16;6:25-32. doi: 10.2147/TACG.S33966. Print 2013.
Crohn's disease is an immune-related disorder characterized by inflammation of the gastrointestinal mucosa, which can occur in any area throughout the digestive tract. This life-long disease commonly presents with abdominal pain, diarrhea, vomiting, and weight loss. While the exact etiology of this disease is largely unknown, it is thought to arise from an interaction between microbial, immunological, and environmental factors in a genetically susceptible host, whereby the immune system attacks the intestine as it cross reacts against gut microbial antigens. The study of genetic variants associated with Crohn's disease has shed light on our understanding of disease pathophysiology. A large number of genetic variants identified in Crohn's disease are related to genes targeting microbial recognition and bacterial wall sensing, the most common being NOD2/CARD15 gene. This review will discuss the recent advance in our knowledge of genetic variants of this disease and how they influence the disease course and prognosis.
克罗恩病是一种与免疫相关的疾病，其特征为胃肠道黏膜炎症，可发生于消化道的任何部位。这种终身性疾病通常表现为腹痛、腹泻、呕吐和体重减轻。虽然该疾病的确切病因在很大程度上尚不清楚，但人们认为它是由遗传易感宿主中微生物、免疫和环境因素之间的相互作用引起的，在此过程中，免疫系统会因对肠道微生物抗原产生交叉反应而攻击肠道。对与克罗恩病相关的基因变异的研究有助于我们理解疾病的病理生理学。在克罗恩病中鉴定出的大量基因变异与靶向微生物识别和细菌壁感知的基因有关，最常见的是NOD2/CARD15基因。本综述将讨论我们对该疾病基因变异的最新认识进展，以及它们如何影响疾病进程和预后。
