title: Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis.
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.
authors.affiliation: Institute of Genetics, University of Nottingham, Nottingham, UK. ed.hollox@nottingham.ac.uk
authors.forename: Edward J
authors.initials: EJ
authors.lastname: Hollox
authors.forename: Jane
authors.initials: J
authors.lastname: Davies
authors.forename: Uta
authors.initials: U
authors.lastname: Griesenbach
authors.forename: Juliana
authors.initials: J
authors.lastname: Burgess
authors.forename: Eric W F W
authors.initials: EW
authors.lastname: Alton
authors.forename: John A L
authors.initials: JA
authors.lastname: Armour
mesh_terms: D000483:Alleles; D015331:Cohort Studies; D003550:Cystic Fibrosis / Q000235:genetics*; D015342:DNA Probes / Q000235:genetics; D004171:Diploidy; D018628:Gene Dosage / Q000235:genetics*; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D023083:beta-Defensins / Q000235:genetics*
chemical_list: D015342:DNA Probes; D023083:beta-Defensins