title: Genetic variation in the IGSF6 gene and lack of association with inflammatory bowel disease.
abstract: The immunoglobulin superfamily 6 gene (IGSF6) on chromosome 16p11-p12 has been investigated as a positional and functional candidate for inflammatory bowel disease (IBD) susceptibility. Screening of the six exons of IGSF6 for single nucleotide polymorphisms (SNPs) detected four novel SNPs, and validated three of six SNPs listed in the international SNP database (dbSNP). The seven SNPs in IGSF6 formed five distinct linkage disequilibrium groups. There was no evidence for association of the common SNPs with disease in a large cohort of patients with IBD. The novel SNPs and the linkage disequilibrium map will be a useful resource for the analysis of IGSF6 in other immune disorders.
authors.affiliation: Department of Medical and Molecular Genetics, Division of Genetics & Development, Guy's, King's & St. Thomas' School of Medicine, King's College London, 8th Floor Guy's Tower, Guy's Hospital, London SE1 9RT, UK.
authors.forename: K
authors.initials: K
authors.lastname: King
authors.forename: A
authors.initials: A
authors.lastname: Moody
authors.forename: S A
authors.initials: SA
authors.lastname: Fisher
authors.forename: M M
authors.initials: MM
authors.lastname: Mirza
authors.forename: A P
authors.initials: AP
authors.lastname: Cuthbert
authors.forename: J
authors.initials: J
authors.lastname: Hampe
authors.forename: A
authors.initials: A
authors.lastname: Sutherland-Craggs
authors.forename: J
authors.initials: J
authors.lastname: Sanderson
authors.forename: A J
authors.initials: AJ
authors.lastname: MacPherson
authors.forename: A
authors.initials: A
authors.lastname: Forbes
authors.forename: J
authors.initials: J
authors.lastname: Mansfield
authors.forename: S
authors.initials: S
authors.lastname: Schreiber
authors.forename: C M
authors.initials: CM
authors.lastname: Lewis
authors.forename: C G
authors.initials: CG
authors.lastname: Mathew
mesh_terms: D016827:CD8 Antigens / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics; D016022:Case-Control Studies; D003093:Colitis, Ulcerative / Q000235:genetics; D003424:Crohn Disease / Q000235:genetics; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D007136:Immunoglobulins / Q000235:genetics*; D015212:Inflammatory Bowel Diseases / Q000235:genetics*; D047908:Intracellular Signaling Peptides and Proteins; D015810:Linkage Disequilibrium; D053473:Nod2 Signaling Adaptor Protein; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide
chemical_list: D016827:CD8 Antigens; D002352:Carrier Proteins; C115408:IGSF6 protein, human; D007136:Immunoglobulins; D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein