Genetic markers and the classification of Inflammatory Bowel Disease

Authors G. Bouma, A.S. Peña.


Crohns disease and ulcerative colitis are common causes
of gastrointestinal morbidity in the Western World. The
exact aetiology is unknown, yet, it is generally accepted that
disease occurs as the consequence of dysregulated immune
response to one or more exogenous factors in a genetically
predisposed host. Epidemiological, family, association, and
human genome screening studies have provided overwhelming
evidence for a genetic susceptibility to IBD. These studies
clearly indicate that IBD is not inherited as a simple
Mendelian disorder, but more likely as a complex genetic
trait, including gene-gene and gene-environment interactions.
Recently, significant progress has been accomplished
in understanding the immunological mechanisms that mediate
chronic intestinal inflammation, as well as in identifying
the genetic abnormalities that underlie these pathologic
inflammatory responses. In the current review, we will
focus on recent developments in unravelling the genetic
basis of IBD and we will discuss the potential clinical applications
of these findings.