Human beta defensin (HBD) gene copy number affects HBD2 protein levels: impact on cervical bactericidal immunity in pregnancy

被引：16
作者：
James, Catherine P. [1 ,2 ]
Bajaj-Elliott, Mona [2 ]
Abujaber, Razan [3 ]
Forya, Frida [1 ]
Klein, Nigel [2 ]
David, Anna L. [1 ]
Hollox, Edward J. [3 ]
Peebles, Donald M. [1 ]
机构：
[1] UCL Inst Womens Hlth, 86-96 Chenies Mews, London WC1E 6HX, England
[2] UCL Great Ormond St Inst Child Hlth, 30 Guilford St, London WC1N 1EH, England
[3] Univ Leicester, Dept Genet & Genome Biol, Leicester LE1 7RH, Leics, England
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26卷 / 03期
基金：
英国惠康基金;
关键词：
D O I：
10.1038/s41431-017-0061-7
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
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.
引用
收藏
页码：434 / 439
页数：6
相关论文
共 16 条
  • [1] Allelic recombination between distinct genomic locations generates copy number diversity in human β-defensins
    Abu Bakar, Suhaili
    Hollox, Edward J.
    Armour, John A. L.
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2009, 106 (03) : 853 - 858
  • [2] Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease
    Aldhous, Marian C.
    Abu Bakar, Suhaili
    Prescott, Natalie J.
    Palla, Raquel
    Soo, Kimberley
    Mansfield, John C.
    Mathew, Christopher G.
    Satsangi, Jack
    Armour, John A. L.
    [J]. HUMAN MOLECULAR GENETICS, 2010, 19 (24) : 4930 - 4938
  • [3] Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats
    Armour, John A. L.
    Palla, Raquel
    Zeeuwen, Patrick L. J. M.
    den Heijer, Martin
    Schalkwijk, Joost
    Hollox, Edward J.
    [J]. NUCLEIC ACIDS RESEARCH, 2007, 35 (03)
  • [4] The cervical mucus plug: Structured review of the literature
    Becher, Naja
    Waldorf, Kristina Adams
    Hein, Merete
    Uldbjerg, Niels
    [J]. ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA, 2009, 88 (05) : 502 - 513
  • [5] Croghan CW., METHODS DEALING VALU
  • [6] Expression of human β-defensin 2 (hBD-2) in Helicobacter pylori induced gastritis:: antibacterial effect of hBD-2 against Helicobacter pylori
    Hamanaka, Y
    Nakashima, M
    Wada, A
    Ito, M
    Kurazono, H
    Hojo, H
    Nakahara, Y
    Kohno, S
    Hirayama, T
    Sekine, I
    [J]. GUT, 2001, 49 (04) : 481 - 487
  • [7] A Worldwide Analysis of Beta-Defensin Copy Number Variation Suggests Recent Selection of a High-Expressing DEFB103 Gene Copy in East Asia
    Hardwick, Robert J.
    Machado, Lee R.
    Zuccherato, Luciana W.
    Antolinos, Suzanne
    Xue, Yali
    Shawa, Nyambura
    Gilman, Robert H.
    Cabrera, Lilia
    Berg, Douglas E.
    Tyler-Smith, Chris
    Kelly, Paul
    Tarazona-Santos, Eduardo
    Hollox, Edward J.
    [J]. HUMAN MUTATION, 2011, 32 (07) : 743 - 750
  • [8] Psoriasis is associated with increased β-defensin genomic copy number
    Hollox, Edward J.
    Huffmeier, Ulrike
    Zeeuwen, Patrick L. J. M.
    Palla, Raquel
    Lascorz, Jesús
    Rodijk-Olthuis, Diana
    van de Kerkhof, Peter C. M.
    Traupe, Heiko
    de Jongh, Gys
    den Heijer, Martin
    Reis, Andre
    Armour, John A. L.
    Schalkwijk, Joost
    [J]. NATURE GENETICS, 2008, 40 (01) : 23 - 25
  • [9] Extensive normal copy number variation of a β-defensin antimicrobial-gene cluster
    Hollox, EJ
    Armour, JAL
    Barber, JCK
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (03) : 591 - 600
  • [10] β-Defensin-2 Protein Is a Serum Biomarker for Disease Activity in Psoriasis and Reaches Biologically Relevant Concentrations in Lesional Skin
    Jansen, Patrick A. M.
    Rodijk-Olthuis, Diana
    Hollox, Edward J.
    Kamsteeg, Marijke
    Tjabringa, Geuranne S.
    de Jongh, Gys J.
    van Vlijmen-Willems, Ivonne M. J. J.
    Bergboer, Judith G. M.
    van Rossum, Michelle M.
    de Jong, Elke M. G. J.
    den Heijer, Martin
    Evers, Andrea W. M.
    Bergers, Mieke
    Armour, John A. L.
    Zeeuwen, Patrick L. J. M.
    Schalkwijk, Joost
    [J]. PLOS ONE, 2009, 4 (03):
12