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A genomewide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort

Item Type:Article
Title:A genomewide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort
Creators Name:Hampe, J. and Schreiber, S. and Shaw, S.H. and Lau, K.F. and Bridger, S. and Macpherson, A.J. and Cardon, L.R. and Sakul, H. and Harris, T.J. and Buckler, A. and Hall, J. and Stokkers, P. and van Deventer, S.J. and Nuernberg, P. and Mirza, M.M. and Lee, J.C. and Lennard-Jones, J.E. and Mathew, C.G. and Curran, M.E.
Abstract:Inflammatory bowel disease (IBD) is characterized by a chronic relapsing intestinal inflammation, typically starting in early adulthood. IBD is subdivided into two subtypes, on the basis of clinical and histologic features: Crohn disease and ulcerative colitis (UC). Previous genomewide searches identified regions harboring susceptibility loci on chromosomes 1, 3, 4, 7, 12, and 16. To expand our understanding of the genetic risk profile, we performed a 9-cM genomewide search for susceptibility loci in 268 families containing 353 affected sibling pairs. Previous linkages on chromosomes 12 and 16 were replicated, and the chromosome 4 linkage was extended in this sample. New suggestive evidence for autosomal linkages was observed on chromosomes 1, 6, 10, and 22, with LOD scores of 2.08, 2.07, 2.30, and 1.52, respectively. A maximum LOD score of 1.76 was observed on the X chromosome, for UC, which is consistent with the clinical association of IBD with Ullrich-Turner syndrome. The linkage finding on chromosome 6p is of interest, given the possible contribution of human leukocyte antigen and tumor necrosis-factor genes in IBD. This genomewide linkage scan, done with a large family cohort, has confirmed three previous IBD linkages and has provided evidence for five additional regions that may harbor IBD predisposition genes.
Keywords:Cohort Studies, Ulcerative Colitis, Crohn Disease, Genetic Markers, Genetic Predisposition to Disease, Genetic Screening, Genotype, Inflammatory Bowel Diseases, Linkage, Lod Score
Source:American Journal of Human Genetics
Publisher:University of Chicago Press
Page Range:808-816
Date:March 1999
Official Publication:http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=10053016
PubMed:View item in PubMed

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