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.
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Acknowledgements
The authors would like to thank the physicians, patients and their families, and the National Association for Colitis and Crohn's Disease, UK. We acknowledge Dr Keri Aitchison, Daphne Lever, Heather Holt and the research nurses for assistance in patient collection and John Herbert, Gordon Duncan and the Oxagen Limited support team for their technical assistance. D van Heel is a Medical Research Council Clinical Training Fellow. A MRC LINK Grant has supported this research.
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Dechairo, B., Dimon, C., van Heel, D. et al. Replication and extension studies of inflammatory bowel disease susceptibility regions confirm linkage to chromosome 6p (IBD3). Eur J Hum Genet 9, 627–633 (2001). https://doi.org/10.1038/sj.ejhg.5200687
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DOI: https://doi.org/10.1038/sj.ejhg.5200687
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