Beta-defensins, a group of antimicrobial peptides that can modulate immune response, are encoded by genes (DEFBs) on chromosome 8p23.1, a region subject to copy number variations (CNVs). This study aimed to investigate the influence of DEFB4 CNV on both mRNA and protein expression in human 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). In conclusion, DEFB4 CNV has an impact on gene expression in mRNA but not protein level in monocytes.
Influence of DEFB4 copy number variants on gene expression in monocytes
Byviralglobalnews.in
Oct 27, 2025Influence of DEFB4 copy number variants on gene expression in monocytes
Byviralglobalnews.in
Oct 27, 2025Beta-defensins, a group of antimicrobial peptides that can modulate immune response, are encoded by genes (DEFBs) on chromosome 8p23.1, a region subject to copy number variations (CNVs). This study aimed to investigate the influence of DEFB4 CNV on both mRNA and protein expression in human 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). In conclusion, DEFB4 CNV has an impact on gene expression in mRNA but not protein level in monocytes.