Human beta defensin-1 is involved in the susceptibility to adeno-tonsillar hypertrophy

Zupin, Luisa; Celsi, Fulvio; Bresciani, Martina; Orzan, Eva; Grasso, Domenico Leonardo; Crovella, Sérgio

doi:10.1016/j.ijporl.2018.01.041

Cited by 5 publications

(5 citation statements)

References 33 publications

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“…Studies have implicated risk loci associated with childhood tonsillectomy in SH2B4 and HLA-B genes [ 38 ]; these risk loci are also associated with increased risk for GERD [ 37 ]. While further exploration of associations between risk loci for tonsillectomy, GERD, BE and EAC are needed, another study suggested that functional polymorphisms in the immune-related gene for human beta defensin ( DEFB1) were associated with increased susceptibility to adeno-tonsillar hypertrophy [ 39 ]. As illustrated with proposed mechanisms in Fig 2 , it is possible that underlying genetic factors related to immune function could be associated with GERD, tonsillectomy and cancer development.…”

Section: Discussionmentioning

confidence: 99%

Prior tonsillectomy is associated with an increased risk of esophageal adenocarcinoma

et al. 2020

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Background Esophageal cancer is a deadly cancer with 5-year survival <20%. Although multiple risk factors for esophageal adenocarcinoma (EAC) including obesity, GERD and smoking have been identified, these risk factors do not fully explain the rising incidence of EAC. In this study, we evaluated the association between prior history of tonsillectomy and EAC. Our goal was to determine whether tonsillectomies were more frequent in patients with EAC (cases) than in our thoracic surgery controls. Methods Cases included 452 esophagectomy cases, including 396 with EAC and 56 who underwent esophagectomy for Barrett's esophagus (BE) with high grade dysplasia (HGD). 1,102 thoracic surgery patients with surgical indications other than dysplastic BE or esophageal cancer represented the controls for our analysis. The association of tonsillectomy and HGD/ EAC were primarily evaluated by using univariate tests and then verified by logistic regression analysis. Baseline demographics, medical history, and thoracic surgery controls were compared by using χ 2 tests or 95% CIs. Significant risk factors were considered as covariates in the multivariate models while evaluating the association between tonsillectomy and HGD/EAC. P-values or odds ratios were estimated with 95% confidence limits to identify significances which was more appropriate. Results Tonsillectomy was more common in cases than controls and was found to have a significant association with esophageal cancer (19.9% vs. 12.7%; p-value = 0.0003). This significant association persisted after controlling for other known risk factors/covariates.

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Section: Discussionmentioning

confidence: 99%

Prior tonsillectomy is associated with an increased risk of esophageal adenocarcinoma

et al. 2020

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“…hBDs, participate in the pathology (Zautner 2012). We reported earlier the potential involvement of hBD-1 in adeno-tonsillar disease (Zupin et al 2016(Zupin et al , 2018. We report here our assessment of the role of another member of hBD family, hBD-2.…”

Section: Discussionmentioning

confidence: 87%

Copy number variation, gene expression and histological localization of human beta-defensin 2 in patients with adeno-tonsillar hypertrophy

Celsi

Zupin

Athanasakis

et al. 2020

Biotechnic & Histochemistry

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Both bacterial infections and innate oral immunity response participate in development of adenotonsillar hypertrophy (ATH). ATH can lead to obstructive sleep apnea. We investigated the betadefensin 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.

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“…Then we took into consideration only proteins which were identified with at least 3 unique peptides [29]. In spots 21,35,38,25,44,12,2,27,3,19,1,11,45,20,32A and 4, only 1 protein was identified with at least 3 unique peptides in addition to the contaminants (keratins and hornerin). For all other spots (8,29,23,40,26,5,42) we used the Mascot score and the sequence coverage to pinpoint the most abundant protein present in the spot.…”

Section: Discussionmentioning

confidence: 99%

“…A total of 14 patients, European Caucasian, were examined (median age 8, range 4-14 years; 8 males and 6 females), 7 affected by adenotonsillar hypertrophy (ATH) and 7 presenting recurrent otitis media (RAOM). ATH patients were defined as showing an abnormal growth of pharyngeal or palatine tonsils [43], with associated OSAS as previously defined [44], with no recurrent tonsils infections (chronic tonsillitis). RAOM patients were characterized by having at least three episodes of acute otitis media (AOM) in a period of 6 months or four AOM in 12 months [1].…”

Section: Population Characteristicsmentioning

confidence: 99%

Proteomic Study Identifies Glycolytic and Inflammation Pathways Involved in Recurrent Otitis Media

Ura

Celsi

Zupin

et al. 2020

IJMS

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Recurrent acute otitis media (RAOM) in children is clinically defined as the occurrence of at least three episodes of acute otitis media over a course of 6 months. A further common pathological condition of interest in the context of pediatric otolaryngology is adenotonsillar hypertrophy (ATH), a common cause of obstructive sleep apnea syndrome. Aimed at unraveling the differential modulation of proteins in the two pathologies and at understanding the possible pathways involved in their onset, we analyzed the proteomic profile of the adenoids from 14 RAOM and ATH patients by using two-dimensional gel electrophoresis (2-DE) and mass spectrometry (MS). The 2-DE coupled with MS allowed us to identify 23 spots with significant (p-value < 0.05) changes in protein amount, recognizing proteins involved in neutrophil degranulation and glycolysis pathways.

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Human beta defensin-1 is involved in the susceptibility to adeno-tonsillar hypertrophy

Cited by 5 publications

References 33 publications

Prior tonsillectomy is associated with an increased risk of esophageal adenocarcinoma

Prior tonsillectomy is associated with an increased risk of esophageal adenocarcinoma

Copy number variation, gene expression and histological localization of human beta-defensin 2 in patients with adeno-tonsillar hypertrophy

Proteomic Study Identifies Glycolytic and Inflammation Pathways Involved in Recurrent Otitis Media

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