Genetic factors in inflammatory bowel disease
- Scott B Snapper, MD, PhD
Scott B Snapper, MD, PhD
- Associate Professor of Medicine, Harvard Medical School
- Dermot P B McGovern, MD, PhD, FRCP(Lon)
Dermot P B McGovern, MD, PhD, FRCP(Lon)
- Joshua L and Lisa Z Greer Endowed Chair in IBD Genetics
- Director of Translational Medicine, Professor of Medicine
- Cedars-Sinai Medical Center
Inflammatory bowel disease (IBD) is comprised of two major disorders: ulcerative colitis (UC) and Crohn disease (CD) with more than 1.4 million affected people in the United States . These disorders have both distinct and overlapping pathologic and clinical characteristics. (See "Definition, epidemiology, and risk factors in inflammatory bowel disease".)
The pathogenesis of UC and CD are not well understood. The role of genetic factors will be reviewed here. Immune and microbial mechanisms are discussed separately. (See "Immune and microbial mechanisms in the pathogenesis of inflammatory bowel disease".)
There are two issues related to genetic factors in IBD: factors that increase the susceptibility to IBD, which will be reviewed here; and genetic syndromes that are associated with an increased risk of IBD. However, more than 85 percent of patients with Crohn disease (CD) have no family history of IBD .
Genetic susceptibility — A number of observations in both humans and animal models suggest that genetically determined factors contribute to IBD susceptibility .
Animal models — The ability to delete or modify genes selectively (such as interleukin [IL]-10) in animal models has contributed to the understanding of the genetic loci that may be involved in IBD pathogenesis [4,5]. These experiments have revealed several important observations:
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