Update on the genetics of inflammatory bowel disease |
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Authors: | Judy H Cho MD |
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Institution: | (1) The Martin Boyer Laboratories, The University of Chicago, 5841 South Maryland Avenue, MC 6084, 60637 Chicago, IL, USA |
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Abstract: | Crohn’s disease and ulcerative colitis are related genetic disorders. Epidemiologic studies suggest that both disorders are
caused by a complex interplay of genetic and environmental factors. Genetic linkage studies identify the general chromosomal
locations of disease susceptibility genes, and a number of genetic linkages have been reported in inflammatory bowel disease
(IBD). Most notable among these linkage regions has been the linkage in the pericentromeric region of chromosome 16, IBD1,
among families multiply affected with Crohn’s disease. Recent studies have established that at least three coding region variants
in the Nod2 gene are responsible for the linkage findings here, and Nod2 therefore represents the first definitively established gene contributing to the pathogenesis of IBD. The implications of
these findings for advancing our understanding of Crohn’s disease are discussed. |
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