Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis.
journal contributionposted on 2012-10-24, 09:16 authored by Edward J. Hollox, J. Davies, U. Griesenbach, J. Burgess, E. W. Alton, J. A. Armour
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.