Genetic variants and the risk of Crohn’s disease: what does it mean for future disease management?

Abstract

Genetic research in inflammatory bowel disease, especially in Crohn’s disease, has made significant progress during recent years. There have been > 10 total genome scans that have been performed, and susceptibility loci on several chromosomes have been identified. Together with candidate gene studies, these scans have led to the identification of several susceptibility genes, with CARD15 being the most important. These genetic data have already provided important insights into the pathophysiology of inflammatory bowel disease and are stimulating future research. On the other hand, genotype–phenotype associations have illustrated the heterogenic nature of the disease. Although the clinical application of this knowledge is so far limited, there is significant optimism that an individual management of patients based on genetic data will be possible in the near future.

Keywords::

• clinical management
• Crohn’s disease
• genetics
• pharmacogenomics
• phenotypes

Acknowledgment

The authors would like to acknowledge the support of the The Eli & Edythe Broad Foundation.

Notes