Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis.

Hollox EJ, Davies JC, Griesenbach U, Burgess J, Alton EW, Armour JA

Journal Of Negative Results In Biomedicine

J Negat Results Biomed. 2005 Dec 7;4:9.

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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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