Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis
Open Access
- 7 December 2005
- journal article
- Published by Springer Nature in Journal of Negative Results in BioMedicine
- Vol. 4 (1) , 9
- https://doi.org/10.1186/1477-5751-4-9
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.Keywords
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