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.

SUBMITTER: Hollox EJ 

PROVIDER: S-EPMC1318481 | biostudies-literature | 2005 Dec

REPOSITORIES: biostudies-literature