title: Polymorphism in NOD2, Crohn's disease, and susceptibility to pulmonary tuberculosis.
abstract: The nucleotide oligomerization binding domain 2 gene (NOD2) encodes an intracellular receptor for bacterial components, which is expressed in monocytes and is associated with Crohn's Disease (CD). This finding, along with epidemiological evidence, supports a role for infection in the pathogenesis of CD. Speculation that mycobacteria are involved in CD led us to investigate NOD2 in susceptibility to tuberculosis (TB), a global public health problem caused by Mycobacterium tuberculosis. CD-associated NOD2 variants were absent in a case-control study of 640 Gambians, where CD is rare. Novel NOD2 promoter polymorphisms were identified but showed no association with TB in this African population sample.
authors.affiliation: Department of Medicine, University of Cambridge School of Clinical Medicine, Wellcome Trust/MRC Building, Addenbrooke's Hospital, Hills Road, Cambridge CB2 2XY, UK.
authors.forename: Jemima C
authors.initials: JC
authors.lastname: Stockton
authors.forename: Joanna M M
authors.initials: JM
authors.lastname: Howson
authors.forename: Agnes A
authors.initials: AA
authors.lastname: Awomoyi
authors.forename: Keith P
authors.initials: KP
authors.lastname: McAdam
authors.forename: Jenefer M
authors.initials: JM
authors.lastname: Blackwell
authors.forename: Melanie J
authors.initials: MJ
authors.lastname: Newport
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002352:Carrier Proteins / Q000235:genetics*; D016022:Case-Control Studies; D003424:Crohn Disease / Q000235:genetics* / Q000382:microbiology; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008875:Middle Aged; D009169:Mycobacterium tuberculosis / Q000254:growth & development; D053473:Nod2 Signaling Adaptor Protein; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D017422:Sequence Analysis, DNA; D014397:Tuberculosis, Pulmonary / Q000150:complications / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein