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Trends Immunol DOI:10.1016/

From genetics of inflammatory bowel disease towards mechanistic insights.

Publication TypeJournal Article
Year of Publication2013
AuthorsGraham, DB, Xavier, RJ
JournalTrends Immunol
Date Published2013 Aug
KeywordsGene-Environment Interaction, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Inflammatory Bowel Diseases

Advancements in human genetics now poise the field to illuminate the pathophysiology of complex genetic disease. In particular, genome-wide association studies (GWAS) have generated insights into the mechanisms driving inflammatory bowel disease (IBD) and implicated genes shared by multiple autoimmune and autoinflammatory diseases. Thus, emerging evidence suggests a central role for the mucosal immune system in mediating immune homeostasis and highlights the complexity of genetic and environmental interactions that collectively modulate the risk of disease. Nevertheless, the challenge remains to determine how genetic variation can precipitate and sustain the inappropriate inflammatory response to commensals that is observed in IBD. Here, we highlight recent advancements in immunogenetics and provide a forward-looking view of the innovations that will deliver mechanistic insights from human genetics.


Alternate JournalTrends Immunol.
PubMed ID23639549
PubMed Central IDPMC3735683
Grant ListR01 DK092405 / DK / NIDDK NIH HHS / United States