Human beta defensin (HBD) gene copy number affects HBD2 protein levels: impact on cervical bactericidal immunity in pregnancy
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...
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| Veröffentlicht in: | European journal of human genetics : EJHG 2018-03, Vol.26 (3), p.434-439 |
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| container_title | European journal of human genetics : EJHG |
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| creator | James, Catherine P Bajaj-Elliott, Mona Abujaber, Razan Forya, Frida Klein, Nigel David, Anna L Hollox, Edward J Peebles, Donald M |
| description | 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. |
| doi_str_mv | 10.1038/s41431-017-0061-7 |
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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.</description><identifier>ISSN: 1018-4813</identifier><identifier>EISSN: 1476-5438</identifier><identifier>DOI: 10.1038/s41431-017-0061-7</identifier><identifier>PMID: 29367706</identifier><language>eng</language><publisher>England: Nature Publishing Group</publisher><subject>Antimicrobial activity ; Antimicrobial agents ; beta-Defensins - genetics ; beta-Defensins - metabolism ; Brief Communication ; Copy number ; DNA Copy Number Variations ; Female ; Gene Dosage ; Humans ; Immunity, Innate - genetics ; Mucosa ; Pregnancy ; Pregnancy Complications, Infectious - genetics ; Pregnancy Complications, Infectious - immunology ; Premature birth ; Proteins ; Risk factors ; Uterus - immunology ; Uterus - microbiology</subject><ispartof>European journal of human genetics : EJHG, 2018-03, Vol.26 (3), p.434-439</ispartof><rights>2018. 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| subjects | Antimicrobial activity Antimicrobial agents beta-Defensins - genetics beta-Defensins - metabolism Brief Communication Copy number DNA Copy Number Variations Female Gene Dosage Humans Immunity, Innate - genetics Mucosa Pregnancy Pregnancy Complications, Infectious - genetics Pregnancy Complications, Infectious - immunology Premature birth Proteins Risk factors Uterus - immunology Uterus - microbiology |
| title | Human beta defensin (HBD) gene copy number affects HBD2 protein levels: impact on cervical bactericidal immunity in pregnancy |
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