Research

Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis

Edward J Hollox¹ , Jane Davies^2,3 , Uta Griesenbach² , Juliana Burgess⁴ , Eric WFW Alton² and John AL Armour¹

¹  Institute of Genetics, University of Nottingham, Nottingham, UK

²  Department of Gene Therapy, Faculty of Medicine at the National Heart and Lung Institute, Imperial College, London, UK

³  Paediatric Respiratory Disease, Royal Brompton Hospital, London, UK

⁴  Adult Cystic Fibrosis, Royal Brompton Hospital, London, UK

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Journal of Negative Results in BioMedicine 2005, 4:9doi:10.1186/1477-5751-4-9

Published:	7 December 2005

Abstract

Human beta-defensin 2 (DEFB4, also known as DEFB2 or hBD-2) is a salt-sensitive antimicrobial protein that is expressed in lung epithelia. Previous work has shown that it is encoded in a cluster of beta-defensin genes at 8p23.1, which varies in copy number between 2 and 12 in different individuals. We determined the copy number of this locus in 355 patients with cystic fibrosis (CF), and tested for correlation between beta-defensin cluster genomic copy number and lung disease associated with CF. No significant association was found.