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

作　　者：Epameinondas V Tsianos Konstantinos H Katantions Vasileios E Tsianos 

机构地区：[1]1st Division of Internal Medicine and Hepato-Gas-troenterology Unit, Department of Medicine, Medical School,University of Ioannina, Leoforos Stavrou Niarxou, PO Box 1186,45110 Ioannina, Greece

出　　处：《World Journal of Gastroenterology》2011年第48期5246-5259,共14页世界胃肠病学杂志（英文版）

摘　　要：Considering the 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 so far been related to the diagnosis of Crohn's disease. These 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 strongest and most replicated associations with Crohn's disease have been demonstrated with NOD2 , IL23R and ATG16L1 genes. Many genes have so far been implicated in the prognosis of Crohn's disease and many attempts have been made for classification of genetic profiles in Crohn's disease.CARD15 seems to be not only a susceptibility gene, but also a disease-modifier gene for Crohn's disease. Enriching our understanding of Crohn's disease genetics is of value, but when combining genetic data with functional data the outcome could be of major importance to clinicians.Considering the epidemiological, genetic and immunological data, we can conclude that the inflammatory bowel diseases are heterogeneous disorders of multi- factorial 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 so far been related to the diagnosis of Crohn＇s disease. These 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 strongest and most replicated associations with Crohn＇s disease have been demonstrated with NOD2, IL23R and ATG16L1 genes. Many genes have so far been implicated in the prognosis of Crohn＇s disease and many attempts have been made for classification of genetic profiles in Crohn＇s disease. CARD15 seems to be not only a susceptibility gene, but also a disease-modifier gene for Crohn＇s disease. Enriching our understanding of Crohn＇s disease genetics is of value, but when combining genetic data with functional data the outcome could be of major importance to clinicians.

关 键 词：Crohn＇s disease GENETICS POLYMORPHISM Diagnosis PROGNOSIS Genome-wide scan Genetic consortium 

分 类 号：R574.62[医药卫生—消化系统]