www.uhasselt.be
DSpace

Document Server@UHasselt >
Research >
Research publications >

Please use this identifier to cite or link to this item: http://hdl.handle.net/1942/2200

Title: Genome wide scan in a Flemish inflammatory bowel disease population: support for the IBD4 locus, population heterogeneity, and epistasis
Authors: Vermeire, S
Rutgeerts, P
VAN STEEN, Kristel
Joossens, S
Claessens, G
Pierik, M
Peeters, M
Vlietinck, R
Issue Date: 2004
Publisher: B M J PUBLISHING GROUP
Citation: GUT, 53(7). p. 980-986
Abstract: Background and aims: Genome wide scans in inflammatory bowel disease (IBD) have indicated various susceptibility regions with replication of 16cen (IBD1), 12q (IBD2), 6p (IBD3), 14q11 (IBD4), and 3p21. As no linkage was previously found on IBD regions 3, 7, 12, and 16 in Flemish IBD families, a genome wide scan was performed to detect other susceptibility regions in this population. Methods: A cohort of 149 IBD affected relative pairs, all recruited from the Northern Flemish part of Belgium, were genotyped using microsatellite markers at 12 cM intervals, and analysed by Genehunter non-parametric linkage software. All families were further genotyped for the three main Crohn's disease associated variants in the NOD2/CARD15 gene. Results: Nominal evidence for linkage was observed on chromosomes 1 (D1S197: multipoint nonparametric linkage (NPL) score 2.57, p = 0.004; and at D1S305-D1S252: NPL 2.97, p = 0.001), 4q (D4S406: NPL 1.95, p = 0.03), 6q16 (D6S314: NPL 2.44, p = 0.007), 10p12 (D10S197: NPL 2.05, p = 0.02), 11q22 (D11S35-D11S927: NPL 1.95, p = 0.02) 14q11-12 (D14S80: NPL 2.41, p = 0.008), 20p12 (D20S192: NPL 2.7, p = 0.003), and Xq (DXS990: NPL 1.70, p = 0.04). A total of 51.4% of patients carried at least one NOD2/CARD15 variant. Furthermore, epistasis was observed between susceptibility regions 6q/10p and 20p/10p. Conclusion: Genome scanning in a Flemish IBD population found nominal evidence for linkage on 1p, 4q, 10p12, and 14q11, overlapping with other genome scan results, with linkage on 14q11-12 supporting the IBD4 locus. The results further show that epistasis is contributing to the complex model of IBD and indicate that population heterogeneity is not to be underestimated. Finally, NOD2/CARD15 is clearly implicated in the Flemish IBD population.
Notes: Univ Hosp Gasthuisberg, Dept Gastroenterol, B-3000 Louvain, Belgium. Univ Hosp Gasthuisberg, Dept Human Genet, B-3000 Louvain, Belgium. Limburgs Univ Ctr, Ctr Stat, Diepenbeek, Belgium.Rutgeerts, P, Univ Hosp Gasthuisberg, Dept Gastroenterol, Herestr 49, B-3000 Louvain, Belgium.Paul.Rutgeerts@uz.kuleuven.ac.be
URI: http://hdl.handle.net/1942/2200
DOI: 10.1136/gut.2003.034033
ISI #: 000222021800015
ISSN: 0017-5749
Category: A1
Type: Journal Contribution
Validation: ecoom, 2005
Appears in Collections: Research publications

Files in This Item:

There are no files associated with this item.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.