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Curr Opin Genet Dev. 2004 Jun;14(3):264-70.

Molecular genetics of Crohn's disease.

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  • 1University of Edinburgh Department of Medical Sciences, School of Clinical and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK.


Progress in the genetics of complex diseases has been slow over the past two decades compared to many simple Mendelian traits. However, rapid advances are now being made in inflammatory bowel disease genetics, leading already to identification of the first gene linked to Crohn's disease susceptibility: NOD2/CARD15. Since its discovery three years ago, there has been replication of the association of NOD2/CARD15 mutations with Crohn's disease in many populations, together with identification of phenotypic correlations. Functional studies promise to increase understanding of the primary pathophysiology involved in Crohn's disease and these discoveries may yet change clinical practice.

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