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人类β防御素（HBD）基因拷贝数影响 HBD2 蛋白水平：对妊娠宫颈杀菌免疫的影响。

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

机构信息

UCL Institute for Women's Health, 86-96 Chenies Mews, London, WC1E 6HX, UK.

UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.

出版信息

Eur J Hum Genet. 2018 Mar;26(3):434-439. doi: 10.1038/s41431-017-0061-7. Epub 2018 Jan 24.

DOI:10.1038/s41431-017-0061-7
PMID:29367706
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5831986/
Abstract

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.

摘要

人β防御素 2（HBD2）是一种内源性黏膜抗菌肽（AMP），在感染和炎症期间上调。HBD2 由 DEFB4 基因编码，该基因表现出广泛的拷贝数变异。先前的研究表明 HBD 拷贝数与血清 HBD2 蛋白水平之间存在关系；然而，我们目前对拷贝数对黏膜 AMP 功能的影响的理解仍然有限。本研究探讨了 203 名有早产风险因素的女性的 HBD 拷贝数、宫颈阴道 HBD2 蛋白水平和抗菌活性之间的关系。我们提供的证据表明，HBD 拷贝数调节宫颈抗菌免疫。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec7b/5839030/47ceaf9fbb29/41431_2017_61_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec7b/5839030/d7b7ddca20af/41431_2017_61_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec7b/5839030/47ceaf9fbb29/41431_2017_61_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec7b/5839030/d7b7ddca20af/41431_2017_61_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec7b/5839030/47ceaf9fbb29/41431_2017_61_Fig2_HTML.jpg

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