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Updated: Aug 14, 2026

Cystic Fibrosis Aggregate Biofilm Model to Study Infection-relevant Gene Expression
Published on: April 18, 2025
Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis
Edward J Hollox1, Jane Davies, Uta Griesenbach
1Institute of Genetics, University of Nottingham, Nottingham, UK. ed.hollox@nottingham.ac.uk
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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