ADAM gene linked to asthma
© BioMed Central Ltd 2002
Published: 15 July 2002
Asthma is a chronic respiratory disorder with a strong genetic component, but the exact genes involved have remained unclear. In 11 July Nature, Paul Van Eerdewegh and colleagues from the Genome Therapeutics Corporation, Massachusetts, US and the University of Southampton, UK, show that specific mutations in the ADAM33 (membrane-anchored metalloproteases) genes are associated with asthma and bronchial hyperresponsiveness (Nature 2002, DOI:10.1038/nature00878).
Van Eerdewegh et al. performed a genome-wide scan on 460 Caucasian families and identified a locus on chromosome 20p13 that was linked to asthma and bronchial hyperresponsiveness. In addition, a survey of 135 polymorphisms in 23 genes using case-control, transmission disequilibrium and haplotype analyses identified the ADAM33 gene as being significantly associated with asthma (P= 0.04-0.000003). They estimate the gene could play a significant role in up to 40% of all asthma cases.
"Our studies suggest ADAM33 plays a role in [airway] remodeling and may underlie abnormalities in asthmatic airway function," says Professor Stephen Holgate, a lead collaborator on the project from University of Southampton, School of Medicine.
- Van Eerdewegh P, Little RD, Dupuis J, et al.: Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness. Nature 2002, DOI:10.1038/nature00878., [http://www.nature.com]
- Genome Therapeutics Corporation, [http://www.genomecorp.com/]
- Respiratory Cell and Molecular Biology, University of Southampton, [http://www.som.soton.ac.uk/research/rcmb/]