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Human Molecular Genetics Advance Access originally published online on February 19, 2004
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Human Molecular Genetics, 2004, Vol. 13, No. 7 763-770
DOI: 10.1093/hmg/ddh090

Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs

David A. van Heel1,*, Sheila A. Fisher2, Andrew Kirby3, Mark J. Daly3, John D. Rioux3 and Cathryn M. Lewis2 the Genome Scan Meta-Analysis Group of the IBD International Genetics Consortium{dagger}

1Department of Gastroenterology, Imperial College London W12 0NN, UK, 2Division of Medical and Molecular Genetics, Guy's King's and St Thomas' School of Medicine, London SE1 9RT, UK and 3Whitehead Institute/MIT Center for Genome Research, Cambridge, MA 02139-1561, USA

Received December 17, 2003; Accepted February 5, 2004

Crohn's disease and ulcerative colitis (the inflammatory bowel diseases) have a strong genetic component. Although over 20 putative susceptibility loci have been identified by individual genome scans, the majority of these loci have not been replicated. Many individual studies are at the lower limit of acceptable power for complex disease linkage analysis. Genome scan meta-analysis (GSMA), by use of sample sizes an order of magnitude greater than individual linkage studies, has increased power to detect novel loci, may confirm or refute regions detected in smaller individual studies, and enables regions to be prioritized for further gene identification efforts. Genome scan data (markers, significance scores) were obtained from 10 separate studies and meta-analysis was performed using the GSMA method. These studies comprised 1952 inflammatory bowel disease, 1068 Crohn's disease and 457 ulcerative colitis affected relative pairs. Study results were divided into 34 cM chromosomal bins, ranked, weighted by study size, summed across studies and bin-by-bin significance obtained by simulation. A region on chromosome 6p (containing the HLA) met genome wide significance for inflammatory bowel disease. Loci meeting suggestive significance for inflammatory bowel disease were 2q, 3q, 5q, 7q and 16 (NOD2/CARD15 region); Crohn's disease, 2q, 3q, 6p, 16 (NOD2/CARD15 region), 17q, 19p; and ulcerative colitis, 2q. Clustering of adjacent bins was observed for chromosomes 6p, 16, 19p. The meta-analysis has identified novel loci and prioritized genomic regions for further gene identification studies.

* To whom correspondence should be addressed at: Department of Gastroenterology, Imperial College, Hammersmith Campus, Du Cane Road, London W12 0NN, UK. Tel: +44 2083838067; Fax: +44 2087493436; Email: d.vanheel{at}imperial.ac.uk


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