Scientific Publications

From genetics of inflammatory bowel disease towards mechanistic insights.

Publication TypeJournal Article
AuthorsGraham, DB, and Xavier RJ
AbstractAdvancements 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.
Year of Publication2013
JournalTrends in immunology
Date Published (YYYY/MM/DD)2013/04/29
ISSN Number1471-4906
DOI10.1016/j.it.2013.04.001
PubMedhttp://www.ncbi.nlm.nih.gov/pubmed/23639549?dopt=Abstract