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World J Gastroenterol. 2015 Nov 21;21(43):12296-310. doi: 10.3748/wjg.v21.i43.12296.

Genetics of inflammatory bowel disease from multifactorial to monogenic forms.

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Anna Monica Bianco, Martina Girardelli, Alberto Tommasini, Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34137 Trieste, Italy.


Inflammatory bowel disease (IBD) is a group of chronic multifactorial disorders. According to a recent study, the number of IBD association loci is increased to 201, of which 37 and 27 loci contribute specifically to the development of Crohn's disease and ulcerative colitis respectively. Some IBD associated genes are involved in innate immunity, in the autophagy and in the inflammatory response such as NOD2, ATG16L1 and IL23R, while other are implicated in immune mediated disease (STAT3) and in susceptibility to mycobacterium infection (IL12B). In case of early onset of IBD (VEO-IBD) within the 6(th) year of age, the disease may be caused by mutations in genes responsible for severe monogenic disorders such as the primary immunodeficiency diseases. In this review we discuss how these monogenic disorders through different immune mechanisms can similarly be responsible of VEO-IBD phenotype. Moreover we would highlight how the identification of pathogenic genes by Next Generation Sequencing technologies can allow to obtain a rapid diagnosis and to apply specific therapies.


Early onset; Genome wide association studies; Inflammatory bowel disease; Next generation sequencing; Primary immunodeficiency disease

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