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

Edward J Hollox1 email, Jane Davies2,3 email, Uta Griesenbach2 email, Juliana Burgess4 email, Eric WFW Alton2 email and John AL Armour1 email

Institute of Genetics, University of Nottingham, Nottingham, UK

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

Paediatric Respiratory Disease, Royal Brompton Hospital, London, UK

Adult Cystic Fibrosis, Royal Brompton Hospital, London, UK

author email corresponding author email

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.


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