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Low-Copy Number Polymorphism in DEFA1/DEFA3 Is Associated with Susceptibility to Hospital-Acquired Infections in Critically Ill Patients

DEFA1/DEFA3, genes encoding human neutrophil peptides (HNP) 1–3, display wide-ranging copy number variations (CNVs) and is functionally associated with innate immunity and infections. To identify potential associations between DEFA1/DEFA3 CNV and hospital-acquired infections (HAIs), we enrolled 106...

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Published in:Mediators of inflammation 2018-01, Vol.2018 (2018), p.1-8
Main Authors: Hu, Zhiyong, Shu, Qiang, Fang, Xiangming, Wu, Shuijing, Li, Zhongwang, Wang, Ya, Chu, Lihua, Xu, Weize, Wang, Lifeng, Gu, Qiang, Zhao, Jialian, Xu, Jianguo
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Language:English
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Summary:DEFA1/DEFA3, genes encoding human neutrophil peptides (HNP) 1–3, display wide-ranging copy number variations (CNVs) and is functionally associated with innate immunity and infections. To identify potential associations between DEFA1/DEFA3 CNV and hospital-acquired infections (HAIs), we enrolled 106 patients with HAIs and 109 controls in the intensive care unit (ICU) and examined their DEFA1/DEFA3 CNVs. DEFA1/DEFA3 copy number ranged from 2 to 16 per diploid genome in all 215 critically ill patients, with a median of 7 copies. In HAIs, DEFA1/DEFA3 CNV varied from 2 to 12 with a median of 6, which was significantly lower than that in controls (2 to 16 with a median of 8, p=0.017). Patients with lower DEFA1/DEFA3 copy number (CNV 
ISSN:0962-9351
1466-1861
DOI:10.1155/2018/2152650