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Human beta defensin (HBD) gene copy number affects HBD2 protein levels: impact on cervical bactericidal immunity in pregnancy

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posted on 2018-04-24, 10:37 authored by C. P. James, M. Bajaj-Elliott, Razan Abujaber, F. Forya, N. Klein, A. L. David, Edward J. Hollox, D. M. Peebles
Human beta defensin 2 (HBD2) is an endogenous mucosal antimicrobial peptide (AMP) upregulated during infection and inflammation. HBD2 is encoded by the DEFB4 gene, which exhibits extensive copy number variation. Previous studies have demonstrated a relationship between HBD copy number and serum HBD2 protein levels; however, our current understanding of the influence of copy number on mucosal AMP function remains limited. This study explores the relationship between HBD copy number, cervicovaginal HBD2 protein levels and antimicrobial activity in 203 women with risk factors for preterm birth. We provide evidence that suggests HBD copy number modulates cervical antimicrobial immunity.

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Citation

European Journal of Human Genetics, 2018, 26 (3), pp. 434-439

Author affiliation

/Organisation/COLLEGE OF LIFE SCIENCES/Biological Sciences/Genetics and Genome Biology

Version

  • VoR (Version of Record)

Published in

European Journal of Human Genetics

Publisher

Nature Publishing Group

issn

1018-4813

eissn

1476-5438

Acceptance date

2017-11-07

Copyright date

2018

Available date

2018-04-24

Publisher version

http://www.nature.com/articles/s41431-017-0061-7

Language

en

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