Gene linked to Crohn's disease

Two independent research teams in Europe and the US have identified a defective gene that increases susceptibility to Crohn's disease.

May 21, 2001

Crohn's disease is a chronic inflammatory disorder of the gastro-intestinal tract, thought to result from the effect of environmental factors in a genetically predisposed host. In May 31 Nature two independent research groups report on the localization of a mutation that increases susceptibility to Crohn's disease.

Gilles Thomas and colleagues from the Fondation Jean Dausett CEPH, Paris and Gabriel Nuñez and colleagues from the University of Michigan Medical School, both pinpointed the genetic mutation to chromosome 16. The normal gene encodes for a protein known as NOD2, which is involved in the recognition of microbes and signalling events leading to an appropriate immune response. The mutation impairs proper signalling and may result in an exaggerated inflammatory response.

Ogura et al estimate that around 15% of patients with Crohn's disease have an altered form of the gene responsible for NOD2. Having one copy of the mutated gene doubles the...

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