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

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

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

出　　处：《World Journal of Gastroenterology》2012年第2期105-118,共14页世界胃肠病学杂志（英文版）

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.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.

关 键 词：Crohn＇s GENETICS POLYMORPHISM Diagnosis Prognosis Genome wide scan Genetic consortium 

分 类 号：R574[医药卫生—消化系统]