Chronic Rhinosinusitis: T2r38 Genotyping and Nasal Cytology in Primary Ciliary Dyskinesia.


Journal

The Laryngoscope
ISSN: 1531-4995
Titre abrégé: Laryngoscope
Pays: United States
ID NLM: 8607378

Informations de publication

Date de publication:
02 2023
Historique:
revised: 04 03 2022
received: 06 02 2022
accepted: 11 03 2022
pubmed: 22 3 2022
medline: 19 1 2023
entrez: 21 3 2022
Statut: ppublish

Résumé

Chronic rhinosinusitis (CRS) is a major hallmark of primary ciliary dyskinesia (PCD). We investigated the possible correlation between some severity markers of CRS and several clinical features of the disease. We further studied the bitter taste receptor TAS2R38 polymorphisms to identify the genotypes associated with more severe disease. We included 39 adult PCD patients with (CRSwNP) and without nasal polyposis (CRSsNP); a sample for nasal cytology was obtained and clinical cytological grading (CCG) was determined. The SNOT-22 and Lund-Mackay scores were recorded. A sample of DNA was extracted from peripheral blood to investigate TAS2R38 polymorphisms. CRSwNP patients had features of more severe disease: indeed, they had statistically significantly higher frequency of previous sinus surgery, higher SNOT-22, LM scores, and CCG than CRSsNP patients. Upon genotyping of TAS2R38 polymorphisms, we observed that the AVI-AVI genotype, associated to homozygous nonfunctional bitter TAS2R38 receptor, was more prevalent among CRSwNP (100%) than in CRSsNP patients (0%); furthermore, AVI-AVI subjects showed statistically significantly worse SNOT-22 and CCG scores than PAV-PAV and PAV-AVI subjects. The group of AVI-AVI patients also had more frequent respiratory exacerbations, Gram-negative infections, and Pseudomonas aeruginosa colonization than PAV-PAV and PAV-AVI patients. Our findings indicate for the first time that PCD patients with CRSwNP display a more severe disease than those with CRSsNP. Genotyping of TAS2R38 polymorphisms demonstrated that in PCD patients, the AVI-AVI genotype is strikingly more prevalent among CRSwNP than in CRSsNP, while the PAV-PAV genotype might be protective against Gram-negative infections and respiratory exacerbations. 3 Laryngoscope, 133:248-254, 2023.

Identifiants

pubmed: 35312075
doi: 10.1002/lary.30112
pmc: PMC10078746
doi:

Substances chimiques

Receptors, G-Protein-Coupled 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

248-254

Informations de copyright

© 2022 The Authors. The Laryngoscope published by Wiley Periodicals LLC on behalf of The American Laryngological, Rhinological and Otological Society, Inc.

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Auteurs

Gioia Piatti (G)

Department of Pathophysiology and Transplantation, University of Milan and Unit of Bronchopneumology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Umberto Ambrosetti (U)

Department of Clinical Sciences and Community Health, University of Milan and Division of Otolaryngology, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.

Mirko Aldè (M)

Department of Clinical Sciences and Community Health, University of Milan and Division of Otolaryngology, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.

Giorgia Girotto (G)

Department of Medicine, Surgery and Health Sciences, University of Trieste, Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", Trieste, Italy.

Maria P Concas (MP)

Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", Trieste, Italy.

Sara Torretta (S)

Department of Clinical Sciences and Community Health, University of Milan and Division of Otolaryngology, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.

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