The history of genetics in inflammatory bowel disease

 
This item is provided by the institution :

Repository :
Annals of Gastroenterology
see the original item page
in the repository's web site and access all digital files if the item*
share




2014 (EN)
The history of genetics in inflammatory bowel disease (EN)

D'Amato, Mauro
E. Ek, Weronica
Halfvarson, Jonas

Th einfluence of genetics in the etiology of inflammatory bowel disease (IBD) was initially demonstrated by epidemiological data, including differences in prevalence among different ethnic groups, familial aggregation of IBD, concordance in twins, and association with genetic syndromes. These early observations paved the way to molecular genetics in IBD, and culminated in the identification of nucleotide-binding oligomerization domain containing 2 (NOD2) gene as an IBD risk gene in 2001. As in other complex diseases, the advent of Genome Wide Association studies has dramatically improved the resolution of the IBD genome and our understanding of the pathogenesis of IBD. However, the complexity of the genetic puzzle in IBD seems more pronounced today than ever previously. In total, 163 risk genes/loci have been identified, and the corresponding number of possible causal variants is challenging. The great majority of these loci are associated with both Crohn's disease and ulcerative colitis, suggesting that nearly all of the biological mechanisms involved in one disease play some role in the other. Interestingly, a large proportion of the IBD risk loci are also shared with other immune-mediated diseases, primary immunodefi ciencies and mycobacterial diseases.Keywords Inflammatory bowel disease, genetics, genetic epidemiologyAnn Gastroenterol 2014; 27 (4): 294-303 (EN)

info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion

Ελληνική Γαστροεντερολογική Εταιρία (EL)
Hellenic Society of Gastroenterology (EN)

2014-09-30


Hellenic Society of Gastroenterology (EN)

1792-7463
1108-7471
Annals of Gastroenterology; Volume 27, No 4 (2014); 294 (EN)



*Institutions are responsible for keeping their URLs functional (digital file, item page in repository site)