Replication and extension studies of inflammatory bowel disease susceptibility regions confirm linkage to chromosome 6p ( IBD3 )

作者: Bryan Dechairo , Claire Dimon , David van Heel , Ian Mackay , Mark Edwards

DOI: 10.1038/SJ.EJHG.5200687

关键词: MicrosatelliteGenotypeChromosomeGenetic markerGenetic linkageGeneticsGenetic heterogeneityBiologyCrohn's diseaseInflammatory bowel disease

摘要: Inflammatory bowel disease (IBD) is a chronic inflammatory of the intestine, commonly diagnosed as either ulcerative colitis (UC) or Crohn's (CD). Epidemiological studies have consistently shown that both genetic and environmental factors influence pathogenesis IBD. A number genome scans been conducted in cohorts IBD families with affected sibling pairs (ASPs) to identify chromosomal regions harbour susceptibility genes. Several putative linked loci identified, including two on chromosomes 16 12, IBD1 IBD2, which subsequently replicated by independent region-specific studies. We replication study another linkage region, chromosome 6p (IBD3), extension other regions, 3p 7q. Microsatellite markers across each region were genotyped 284 ASPs from 234 families. nonparametric peak multipoint LOD score 3.0 was observed near D6S291, replicating previous (IBD3). Nominal evidence at 7q regions.

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