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Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families

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Item Type:Article
Title:Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families
Creators Name:Altmüller, J. and Seidel, C. and Lee, Y.A. and Loesgen, S. and Bulle, D. and Friedrichs, F. and Jellouschek, H. and Kelber, J. and Keller, A. and Schuster, A. and Silbermann, M. and Wahlen, W. and Wolff, P. and Rueschendorf, F. and Schlenvoigt, G. and Nuernberg, P. and Wjst, M.
Abstract:BACKGROUND: Asthma is a complex genetic disease with more than 20 genome-wide scans conducted so far. Regions on almost every chromosome have been linked to asthma and several genes have been associated. However, most of these associations are weak and are still awaiting replication. METHODS: In this study, we conducted a second-stage genome-wide scan with 408 microsatellite markers on 201 asthma-affected sib pair families and defined clinical subgroups to identify phenotype-genotype relations. RESULTS: The lowest P value for asthma in the total sample was 0.003 on chromosome 11, while several of the clinical subsets reached lower significance levels than in the overall sample. Suggestive evidence for linkage (p = 0.0007) was found for total IgE on chromosomes 1, 7 and again on chromosome 11, as well as for HDM asthma on chromosome 12. Weaker linkage signals could be found on chromosomes 4 and 5 for early onset and HDM, and, newly described, on chromosome 2 for severe asthma and on chromosome 9 for hay fever. CONCLUSIONS: This phenotypic dissection underlines the importance of detailed clinical characterisations and the extreme genetic heterogeneity of asthma.
Keywords:Age of Onset, Asthma, Human Chromosomes Pair 11, Genotype, Linkage, Microsatellite Repeats, Pedigree, Phenotype, Variation
Source:BMC Pulmonary Medicine
Publisher:BioMed Central
Page Range:1
Date:5 January 2005
Official Publication:https://doi.org/10.1186/1471-2466-5-1
PubMed:View item in PubMed

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