Role of genetics in the diagnosis and prognosis of Crohn's disease

被引：51

作者：

Tsianos, Epameinondas V. ^{[1
,2
]}

Katsanos, Konstantinos H. ^{[1
,2
]}

Tsianos, Vasileios E. ^{[1
,2
]}

机构：

[1] Univ Ioannina, Sch Med, Dept Med, Div Internal Med 1, GR-45110 Ioannina, Greece

[2] Univ Ioannina, Sch Med, Dept Med, Hepatogastroenterol Unit, GR-45110 Ioannina, Greece

来源：

WORLD JOURNAL OF GASTROENTEROLOGY | 2012年 / 18卷 / 02期

关键词：

Crohn's; Genetics; Polymorphism; Diagnosis; Prognosis; Genome wide scan; Genetic consortium; INFLAMMATORY-BOWEL-DISEASE; GENOME-WIDE ASSOCIATION; PLASMINOGEN-ACTIVATOR INHIBITOR; SUSCEPTIBILITY LOCI; RECEPTOR GENE; CARD15; GENE; ULCERATIVE-COLITIS; CANADIAN CHILDREN; NOD2; VARIANTS; PROMOTER POLYMORPHISM;

D O I：

10.3748/wjg.v18.i2.105

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

100201 [内科学];

摘要：

Considering epidemiological, genetic and immunological data, we can conclude that the inflammatory bowel diseases are heterogeneous disorders of multifactorial etiology in which hereditability and environment interact to produce the disease. It is probable that patients have a genetic predisposition for the development of the disease coupled with disturbances in immunoregulation. Several genes have been so far related to the diagnosis of Crohn's disease. Those genes are related to innate pattern recognition receptors, to epithelial barrier homeostasis and maintenance of epithelial barrier integrity, to autophagy and to lymphocyte differentiation. So far, the most strong and replicated associations with Crohn's disease have been done with NOD2, IL23R and ATG16L1 genes. Many genes have so far been implicated in prognosis of Crohn's disease and many attempts have been made to classify genetic profiles in Crohn's disease. CARD15 seems not only a susceptibility gene, but also a disease-modifier gene for Crohn's disease. Enriching our understanding on Crohn's disease genetics is important but when combining genetic data with functional data the outcome could be of major importance to clinicians. (C) 2012 Baishideng. All rights reserved.

引用

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页码：105 / 118

页数：14

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