Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease

Mark S. Silverberg, Richard H. Duerr, Steven R. Brant, Gillian Bromfield, Lisa Datta, Niraj Jani, Sunanda V. Kane, Jerome I. Rotter, L. Philip Schumm, A. Hillary Steinhart, Kent D. Taylor, Huiying Yang, Judy H. Cho, John D. Rioux, Mark J. Daly

Research output: Contribution to journalArticle

Abstract

Although the general association of the inflammatory bowel disease (IBD) 5 region on chromosome 5q31 to Crohn's disease (CD) has been replicated repeatedly, the identity of the precise causal variant within the region remains unknown. A recent report proposed polymorphisms in solute carrier family 22, member 4 (SLC22A4) organic cation transporter 1(OCTN1) and solute carrier family 22, member 5 (SLC22A5) (OCTN2) as responsible for the IBD5 association, but definitive, large-sample comparison of those polymorphisms with others known to be in strong linkage disequilibrium was not performed. We evaluated 1879 affected offspring and parents ascertained by a North American IBD Genetics Consortium for six IBD5 tag single nucleotide polymorphisms (SNPs) to evaluate association localization and ethnic and subphenotypic specificity. We confirm association to the IBD5 region (best SNP IGR2096a_1/rs12521868, P

Original languageEnglish (US)
Pages (from-to)328-335
Number of pages8
JournalEuropean Journal of Human Genetics
Volume15
Issue number3
DOIs
StatePublished - Mar 2007

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Crohn Disease
Single Nucleotide Polymorphism
Organic Cation Transporter 1
Linkage Disequilibrium
Inflammatory Bowel Diseases
Chromosomes
Parents
Inflammatory Bowel Disease 5

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease. / Silverberg, Mark S.; Duerr, Richard H.; Brant, Steven R.; Bromfield, Gillian; Datta, Lisa; Jani, Niraj; Kane, Sunanda V.; Rotter, Jerome I.; Schumm, L. Philip; Steinhart, A. Hillary; Taylor, Kent D.; Yang, Huiying; Cho, Judy H.; Rioux, John D.; Daly, Mark J.

In: European Journal of Human Genetics, Vol. 15, No. 3, 03.2007, p. 328-335.

Research output: Contribution to journalArticle

Silverberg, MS, Duerr, RH, Brant, SR, Bromfield, G, Datta, L, Jani, N, Kane, SV, Rotter, JI, Schumm, LP, Steinhart, AH, Taylor, KD, Yang, H, Cho, JH, Rioux, JD & Daly, MJ 2007, 'Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease', European Journal of Human Genetics, vol. 15, no. 3, pp. 328-335. https://doi.org/10.1038/sj.ejhg.5201756
Silverberg, Mark S. ; Duerr, Richard H. ; Brant, Steven R. ; Bromfield, Gillian ; Datta, Lisa ; Jani, Niraj ; Kane, Sunanda V. ; Rotter, Jerome I. ; Schumm, L. Philip ; Steinhart, A. Hillary ; Taylor, Kent D. ; Yang, Huiying ; Cho, Judy H. ; Rioux, John D. ; Daly, Mark J. / Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease. In: European Journal of Human Genetics. 2007 ; Vol. 15, No. 3. pp. 328-335.
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