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

Publication ,  Journal Article
van Heel, DA; Fisher, SA; Kirby, A; Daly, MJ; Rioux, JD; Lewis, CM; Genome Scan Meta-Analysis Group of the IBD International Genetics Consortium,
Published in: Hum Mol Genet
April 1, 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.

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Published In

Hum Mol Genet

DOI

ISSN

0964-6906

Publication Date

April 1, 2004

Volume

13

Issue

7

Start / End Page

763 / 770

Location

England

Related Subject Headings

  • Statistics as Topic
  • Phenotype
  • Mutation
  • Inflammatory Bowel Diseases
  • Humans
  • Genome, Human
  • Genetics & Heredity
  • Genetic Predisposition to Disease
  • Genetic Linkage
  • Crohn Disease
 

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van Heel, D. A., Fisher, S. A., Kirby, A., Daly, M. J., Rioux, J. D., Lewis, C. M., & Genome Scan Meta-Analysis Group of the IBD International Genetics Consortium, . (2004). Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs. Hum Mol Genet, 13(7), 763–770. https://doi.org/10.1093/hmg/ddh090
Heel, David A. van, Sheila A. Fisher, Andrew Kirby, Mark J. Daly, John D. Rioux, Cathryn M. Lewis, and Cathryn M. Genome Scan Meta-Analysis Group of the IBD International Genetics Consortium. “Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs.Hum Mol Genet 13, no. 7 (April 1, 2004): 763–70. https://doi.org/10.1093/hmg/ddh090.
van Heel DA, Fisher SA, Kirby A, Daly MJ, Rioux JD, Lewis CM, et al. Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs. Hum Mol Genet. 2004 Apr 1;13(7):763–70.
van Heel, David A., et al. “Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs.Hum Mol Genet, vol. 13, no. 7, Apr. 2004, pp. 763–70. Pubmed, doi:10.1093/hmg/ddh090.
van Heel DA, Fisher SA, Kirby A, Daly MJ, Rioux JD, Lewis CM, Genome Scan Meta-Analysis Group of the IBD International Genetics Consortium. Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs. Hum Mol Genet. 2004 Apr 1;13(7):763–770.
Journal cover image

Published In

Hum Mol Genet

DOI

ISSN

0964-6906

Publication Date

April 1, 2004

Volume

13

Issue

7

Start / End Page

763 / 770

Location

England

Related Subject Headings

  • Statistics as Topic
  • Phenotype
  • Mutation
  • Inflammatory Bowel Diseases
  • Humans
  • Genome, Human
  • Genetics & Heredity
  • Genetic Predisposition to Disease
  • Genetic Linkage
  • Crohn Disease