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BMC Pulmonary Medicine
Published in: BMC Pulmonary Medicine 1/2005

Open Access 01-12-2005 | Research article

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

Authors: Janine Altmüller, Corinna Seidel, Young-Ae Lee, Sabine Loesgen, Dieter Bulle, Frank Friedrichs, Heidemarie Jellouschek, Julika Kelber, Angela Keller, Antje Schuster, Michael Silbermann, Wolfgang Wahlen, Peter Wolff, Gerhard Schlenvoigt, Franz Rüschendorf, Peter Nürnberg, Matthias Wjst

Published in: BMC Pulmonary Medicine | Issue 1/2005

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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.
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Metadata
Title
Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families
Authors
Janine Altmüller
Corinna Seidel
Young-Ae Lee
Sabine Loesgen
Dieter Bulle
Frank Friedrichs
Heidemarie Jellouschek
Julika Kelber
Angela Keller
Antje Schuster
Michael Silbermann
Wolfgang Wahlen
Peter Wolff
Gerhard Schlenvoigt
Franz Rüschendorf
Peter Nürnberg
Matthias Wjst
Publication date
01-12-2005
Publisher
BioMed Central
Published in
BMC Pulmonary Medicine / Issue 1/2005
Electronic ISSN: 1471-2466
DOI
https://doi.org/10.1186/1471-2466-5-1

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