Genetic variants associated with Crohn's disease

被引：25

作者：

Michail, Sonia ^{[1
]}

Bultron, Gilberto ^{[1
]}

DePaolo, R. William ^{[2
]}

机构：

[1] Univ Southern Calif, Childrens Hosp, 4650 Sunset Blvd MS 78, Los Angeles, CA 90027 USA

[2] Univ Southern Calif, Keck Sch Med, Mol Microbiol & Immunol, Los Angeles, CA 90033 USA

来源：

APPLICATION OF CLINICAL GENETICS | 2013年 / 6卷

关键词：

Crohn's disease; genetics; autophagy;

D O I：

10.2147/TACG.S33966

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：25 / 32

页数：8

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