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Influence of DEFB4 copy number variants on gene expression in monocytes.


ABSTRACT:

Objective

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.

Results

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

SUBMITTER: Zhang X 

PROVIDER: S-EPMC12557836 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature