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Tytuł pozycji:

TAS2R38 is a novel modifier gene in patients with cystic fibrosis.

Tytuł:
TAS2R38 is a novel modifier gene in patients with cystic fibrosis.
Autorzy:
Castaldo A; Dipartimento di Scienze Mediche Traslazionali, Sezione di Pediatria, Università di Napoli Federico II, CRR Fibrosi Cistica del Bambino, Naples, Italy.; Dipartimento di Sanità Pubblica, Università di Napoli Federico II, Naples, Italy.
Cernera G; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy.; CEINGE Biotecnologie avanzate, s.c.a.r.l., Naples, Italy.
Iacotucci P; Dipartimento di Scienze Mediche Traslazionali, Sezione di Geriatria, Università di Napoli Federico II, CRR Fibrosi Cistica dell'Adulto, Naples, Italy.
Cimbalo C; Dipartimento di Scienze Mediche Traslazionali, Sezione di Pediatria, Università di Napoli Federico II, CRR Fibrosi Cistica del Bambino, Naples, Italy.
Gelzo M; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy.; CEINGE Biotecnologie avanzate, s.c.a.r.l., Naples, Italy.
Comegna M; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy.; CEINGE Biotecnologie avanzate, s.c.a.r.l., Naples, Italy.
Di Lullo AM; Dipartimento di Neuroscienze, Sezione di ORL, Università di Napoli Federico II, Naples, Italy.
Tosco A; Dipartimento di Scienze Mediche Traslazionali, Sezione di Pediatria, Università di Napoli Federico II, CRR Fibrosi Cistica del Bambino, Naples, Italy.
Carnovale V; Dipartimento di Scienze Mediche Traslazionali, Sezione di Geriatria, Università di Napoli Federico II, CRR Fibrosi Cistica dell'Adulto, Naples, Italy.
Raia V; Dipartimento di Scienze Mediche Traslazionali, Sezione di Pediatria, Università di Napoli Federico II, CRR Fibrosi Cistica del Bambino, Naples, Italy.
Amato F; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy. .; CEINGE Biotecnologie avanzate, s.c.a.r.l., Naples, Italy. .
Źródło:
Scientific reports [Sci Rep] 2020 Apr 02; Vol. 10 (1), pp. 5806. Date of Electronic Publication: 2020 Apr 02.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
Język:
English
Imprint Name(s):
Original Publication: London : Nature Publishing Group, copyright 2011-
MeSH Terms:
Genes, Modifier*
Cystic Fibrosis/*genetics
Receptors, G-Protein-Coupled/*genetics
Adolescent ; Adult ; Child ; Cystic Fibrosis/complications ; Cystic Fibrosis/pathology ; Female ; Humans ; Male ; Middle Aged ; Nasal Polyps/etiology ; Nasal Polyps/genetics ; Pneumonia/etiology ; Pneumonia/genetics ; Receptors, G-Protein-Coupled/metabolism
References:
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Substance Nomenclature:
0 (Receptors, G-Protein-Coupled)
0 (taste receptors, type 2)
Entry Date(s):
Date Created: 20200404 Date Completed: 20201124 Latest Revision: 20210402
Update Code:
20240105
PubMed Central ID:
PMC7118092
DOI:
10.1038/s41598-020-62747-9
PMID:
32242045
Czasopismo naukowe
The clinical manifestation of cystic fibrosis (CF) is heterogeneous also in patients with the same cystic fibrosis transmembrane regulator (CFTR) genotype and in affected sibling pairs. Other genes, inherited independently of CFTR, may modulate the clinical manifestation and complications of patients with CF, including the severity of chronic sinonasal disease and the occurrence of chronic Pseudomonas aeruginosa colonization. The T2R38 gene encodes a taste receptor and recently its functionality was related to the occurrence of sinonasal diseases and upper respiratory infections. We assessed the T2R38 genotype in 210 patients with CF and in 95 controls, relating the genotype to the severity of sinonasal disease and to the occurrence of P. aeruginosa pulmonary colonization. The frequency of the PAV allele i.e., the allele associated with the high functionality of the T2R38 protein, was significantly lower in i) CF patients with nasal polyposis requiring surgery, especially in patients who developed the complication before 14 years of age; and ii) in CF patients with chronic pulmonary colonization by P. aeruginosa, especially in patients who were colonized before 14 years of age, than in control subjects. These data suggest a role for T2R38 as a novel modifier gene of sinonasal disease severity and of pulmonary P. aeruginosa colonization in patients with CF.
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