title: Replication and extension studies of inflammatory bowel disease susceptibility regions confirm linkage to chromosome 6p (IBD3).
abstract: Inflammatory bowel disease (IBD) is a chronic inflammatory disease of the intestine, commonly diagnosed as either ulcerative colitis (UC) or Crohn's disease (CD). Epidemiological studies have consistently shown that both genetic and environmental factors influence the pathogenesis of IBD. A number of genome scans have been conducted in cohorts of IBD families with affected sibling pairs (ASPs) to identify chromosomal regions that harbour IBD susceptibility genes. Several putative linked loci have been identified, including two loci on chromosomes 16 and 12, IBD1 and IBD2, which have subsequently been replicated by independent region-specific studies. We have conducted both a replication study on another linkage region, chromosome 6p (IBD3), and extension studies on two other regions, chromosomes 3p and 7q. Microsatellite markers across each region were genotyped in 284 IBD ASPs from 234 families. A nonparametric peak multipoint LOD score of 3.0 was observed near D6S291, replicating the previous linkage to chromosome 6p (IBD3). Nominal evidence of linkage was observed at both the 3p and 7q regions.
authors.affiliation: Oxagen Ltd., Abingdon, Oxfordshire, UK. b.dechairo@oxagen.co.uk
authors.forename: B
authors.initials: B
authors.lastname: Dechairo
authors.forename: C
authors.initials: C
authors.lastname: Dimon
authors.forename: D
authors.initials: D
authors.lastname: van Heel
authors.forename: I
authors.initials: I
authors.lastname: Mackay
authors.forename: M
authors.initials: M
authors.lastname: Edwards
authors.forename: P
authors.initials: P
authors.lastname: Scambler
authors.forename: D
authors.initials: D
authors.lastname: Jewell
authors.forename: L
authors.initials: L
authors.lastname: Cardon
authors.forename: N
authors.initials: N
authors.lastname: Lench
authors.forename: A
authors.initials: A
authors.lastname: Carey
mesh_terms: D002874:Chromosome Mapping / Q000706:statistics & numerical data; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000235:genetics*; D008126:Lod Score; D009679:Nuclear Family
chemical_list: D005819:Genetic Markers