title: Molecular genetics of Crohn's disease.
abstract: 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.
authors.affiliation: University of Edinburgh Department of Medical Sciences, School of Clinical and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK. rrusell@ed.ac.uk
authors.forename: Richard K
authors.initials: RK
authors.lastname: Russell
authors.forename: Elaine R
authors.initials: ER
authors.lastname: Nimmo
authors.forename: Jack
authors.initials: J
authors.lastname: Satsangi
mesh_terms: D000818:Animals; D002874:Chromosome Mapping; D003424:Crohn Disease / Q000235:genetics*; D004195:Disease Models, Animal; D005787:Gene Frequency; D008040:Genetic Linkage / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005828:Genetics, Population; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000737:chemistry / Q000235:genetics*; D051379:Mice; D008967:Molecular Biology; D053473:Nod2 Signaling Adaptor Protein
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein