TY - JOUR
T1 - Copy number variation, gene expression and histological localization of human beta-defensin 2 in patients with adeno-tonsillar hypertrophy
AU - Celsi, Fulvio
AU - Zupin, Luisa
AU - Athanasakis, Emmanouil
AU - Orzan, Eva
AU - Grasso, Domenico Leonardo
AU - Crovella, Sergio
N1 - Funding Information:
This work was supported by University of Trieste under grant [U22SCFRA15]; and IRCCS Burlo Garofolo, Italian Ministry of Health under grant [RC 15/2017].
Publisher Copyright:
© 2020 The Biological Stain Commission.
Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2020/11/16
Y1 - 2020/11/16
N2 - Both bacterial infections and innate oral immunity response participate in development of adeno-tonsillar hypertrophy (ATH). ATH can lead to obstructive sleep apnea. We investigated the beta-defensin 2 (hBD-2) encoding gene, DEFB4, by analyzing the copy number variations (CNVs) of the defensin gene cluster in patients with ATH and by correlating CNV with DEFB4 gene expression. We enrolled 79 patients with ATH, 21 of whom presented with only adenoid hypertrophy, while 58 exhibited hypertrophy of both adenoid and tonsil. CNVs of the defensin gene cluster, DEFB4 mRNA, and hBD-2 protein expression were assessed. Also, beta-defensin 2 was localized histologically using immunohistochemistry. The distribution of defensin gene cluster CNV was similar among the 79 subjects. DEFB4 expression analysis exhibited considerable inter-individual variability, but with neither specific differences among subjects nor correlation with the CNV number. Immunohistochemistry enabled localization of hBD-2 in the tonsil and adenoid epithelium. No differences in localization between the two ATH presentations were found. Inducible antimicrobial defensin peptides exhibited great inter-individual variability in terms of both CNV and gene expression, but no correlation with presentation of ATH was found.
AB - Both bacterial infections and innate oral immunity response participate in development of adeno-tonsillar hypertrophy (ATH). ATH can lead to obstructive sleep apnea. We investigated the beta-defensin 2 (hBD-2) encoding gene, DEFB4, by analyzing the copy number variations (CNVs) of the defensin gene cluster in patients with ATH and by correlating CNV with DEFB4 gene expression. We enrolled 79 patients with ATH, 21 of whom presented with only adenoid hypertrophy, while 58 exhibited hypertrophy of both adenoid and tonsil. CNVs of the defensin gene cluster, DEFB4 mRNA, and hBD-2 protein expression were assessed. Also, beta-defensin 2 was localized histologically using immunohistochemistry. The distribution of defensin gene cluster CNV was similar among the 79 subjects. DEFB4 expression analysis exhibited considerable inter-individual variability, but with neither specific differences among subjects nor correlation with the CNV number. Immunohistochemistry enabled localization of hBD-2 in the tonsil and adenoid epithelium. No differences in localization between the two ATH presentations were found. Inducible antimicrobial defensin peptides exhibited great inter-individual variability in terms of both CNV and gene expression, but no correlation with presentation of ATH was found.
KW - Adeno-tonsillar hypertrophy
KW - copy number variation
KW - defensins
KW - gene expression
KW - human beta-defensin 2
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U2 - 10.1080/10520295.2020.1752936
DO - 10.1080/10520295.2020.1752936
M3 - Article
C2 - 32551953
AN - SCOPUS:85087179601
VL - 95
SP - 634
EP - 640
JO - Biotechnic and Histochemistry
JF - Biotechnic and Histochemistry
SN - 1052-0295
IS - 8
ER -