Influence of DEFB4 copy number variants on gene expression in monocytes
A cohort of 862 healthy blood donors was screened for DEFB4 copy number (CN) by paralog ratio test and 66 individuals were recalled for a second blood donation. Monocytes were isolated from peripheral blood and stimulated by LPS. DEFB4 mRNA and β-defensin 2 protein levels were quantified using qPCR and ELISA, respectively. DEFB4 CN was precisely determined via ddPCR. DEFB4 mRNA was undetectable in unstimulated monocytes but inducible by LPS. Beta-defensin 2 was detectable in freshly isolated monocytes. After stimulation with LPS, beta-defensin 2 was strongly induced and the level was significantly higher than that of non-stimulated controls. A significant correlation between DEFB4 CN and mRNA expression level was found (P < 0.05, r<sub>s</sub> = 0.25). However, no correlation between DEFB4 CN and protein expression including baseline level and the level after stimulation was found (P > 0.05). In conclusion, DEFB4 CNV has an impact on gene expression in mRNA but not protein level in monocytes.
Authors
- Tingting Wen
- Christoph Lippuner (ORCID: https://orcid.org/0000-0003-2872-9381)
- Marcel Schiff (ORCID: https://orcid.org/0000-0003-3408-0064)
- Frank Stüber
- Xianghong Zhang (ORCID: https://orcid.org/0000-0001-6810-3346)
Institutions
- University Hospital of Bern (CH)
- First Affiliated Hospital Zhejiang University (CN)
- Zhejiang University (CN)
Publication Details
- Journal
- BMC Research Notes
- Published
- 2025-10-27
- DOI
- https://doi.org/10.1186/s13104-025-07529-0
- Primary Topic
- Antimicrobial Peptides and Activities
- Type
- article
- Field-Weighted Citation Impact
- 0.00