Inflammatory
Bowel Disease (IBD)
Inflammatory Bowel Disease (IBD) is a gastroenterologic
disorder that can be subdivided on clinical grounds into two types,
Crohn’s disease (CD) and Ulcerative colitis (UC). The purpose
of the research is to identify genes that result in a susceptibility
of subjects to inflammatory bowel disease (IBD), Crohn’s disease
(CD) and ulcerative colitis (UC).
To accomplish this goal families with at least two
subjects diagnosed with IBD are collected and examined. The examination
consisted of a participants questionnaire and in case of an affected
family member a review of the medical records. The information is used
to (1) confirm a diagnosis of IBD and sub-classify affected individuals
on the basis of specific phenotypic characteristics if IBD, (2) control
for known environmental risk factors and (3) observe the presence of
potential other clinical and genetics associations with IBD. We will
continue to narrow down the known regions of interest, and attempt to
sequence the IBD susceptibility genes.
Previously published genome scans for IBD have suggested
several different regions of the genome as potential regions for IBD
susceptibility loci. However, in most cases replication remains a problem.
This is mainly thought to be due to genetic heterogeneity, but also
due to differences in clinical diagnoses, differences in research techniques,
or simply lack of power.
The International Inflammatory Bowel Disease Consortium,
consisting of investigators from seven sites in the U.S., Canada, Australia,
France, Belgium, United Kingdom, Germany, Italy and Finland combined
consistently ascertained families with IBD. All family members are genotyped
for the same candidate genes and genetic markers in regions of interest.
With bi-annual meetings and lively discussions about
research approaches we work on standardizing phenotype definitions,
research approaches and increasing power.
Key Personnel
Carolien Panhuysen, M.D., Ph.D., Principal Investigator
