Advances and perspectives in the genetics of inflammatory bowel diseases.
Several clinical and biological phenotypes define complex diseases such as inflammatory bowel disease (IBD). There is a critical role of the caspase recruitment domain protein 15/nucleotide-binding oligomerization protein 2-dependent (CARD15-NOD2) sensing of bacterial cell wall components in health and disease. The current etiologic model for IBD emphasizes an interaction between susceptibility and modifier genes along with environmental factors. Together, these lead to disease progression. However, further work should clarify the pathophysiological mechanisms leading to IBD and how innate immune signaling confers susceptibility to intestinal inflammation. This is a prerequisite for rational clinical management of IBD. Genetic, functional, serologic testing and development of therapeutics in IBD are discussed.
Chamaillard
Mathias
M
INSERM 0114, Hôpital Swynghedauw, Rue A. Verhaeghe, F-59037 Lille, France. m-chamaillard@chru-lille.fr
Iacob
Razvan
R
Desreumaux
Pierre
P
Colombel
Jean-Frederic
JF
D003424:Crohn Disease / Q000503:physiopathology; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000235:genetics*; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D053473:Nod2 Signaling Adaptor Protein
D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein