Beta-defensin Genomic Copy Number is Not a Modifier Locus for Cystic Fibrosis

Overview

Journal J Negat Results Biomed

Publisher Biomed Central

Specialties Biomedical Engineering
General Medicine

Date 2005 Dec 13

PMID 16336654

Citations 17

Authors

Edward J Hollox

Jane Davies

Uta Griesenbach

Juliana Burgess

Eric W F W Alton

John A L Armour

Affiliations

Soon will be listed here.

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.

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