title: Role of genetics in the diagnosis and prognosis of Crohn's disease.
abstract: 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.
authors.affiliation: 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. etsianos@uoi.gr
authors.forename: Epameinondas V
authors.initials: EV
authors.lastname: Tsianos
authors.forename: Konstantinos H
authors.initials: KH
authors.lastname: Katsanos
authors.forename: Vasileios E
authors.initials: VE
authors.lastname: Tsianos
mesh_terms: D000071183:Autophagy-Related Proteins; D002352:Carrier Proteins / Q000235:genetics; D003424:Crohn Disease / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D007413:Intestinal Mucosa / Q000276:immunology / Q000502:physiology; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics; D027701:Organic Cation Transport Proteins / Q000235:genetics; D011379:Prognosis; D018123:Receptors, Interleukin / Q000235:genetics
chemical_list: C518959:ATG16L1 protein, human; D000071183:Autophagy-Related Proteins; D002352:Carrier Proteins; C515500:IL23R protein, human; D053473:Nod2 Signaling Adaptor Protein; D027701:Organic Cation Transport Proteins; D018123:Receptors, Interleukin