Cystic fibrosis transmembrane conductance regulator function, not TAS2R38 gene haplotypes, predict sinus surgery in children and young adults with cystic fibrosis.
Adolescent
Adult
Child
Child, Preschool
Cystic Fibrosis
/ genetics
Cystic Fibrosis Transmembrane Conductance Regulator
/ genetics
Female
Haplotypes
Humans
Infant
Male
Middle Aged
Nasal Surgical Procedures
Paranasal Sinuses
/ surgery
Receptors, G-Protein-Coupled
/ genetics
Retrospective Studies
Sinusitis
/ genetics
Young Adult
CFTR function
TAS2R38
bitter taste receptor
cystic fibrosis
sinusitis
Journal
International forum of allergy & rhinology
ISSN: 2042-6984
Titre abrégé: Int Forum Allergy Rhinol
Pays: United States
ID NLM: 101550261
Informations de publication
Date de publication:
06 2020
06 2020
Historique:
received:
19
11
2019
revised:
06
02
2020
accepted:
11
02
2020
pubmed:
14
4
2020
medline:
12
8
2021
entrez:
14
4
2020
Statut:
ppublish
Résumé
Chronic rhinosinusitis symptomatology begins in early childhood individuals with cystic fibrosis (CF). Cystic fibrosis transmembrane conductance regulator (CFTR) function contributes to sinus development and disease. Genetic variants of the bitter taste receptor TAS2R38 have been suggested to contribute to sinus disease severity in individuals without CF. Our objective was to explore whether functional TAS2R38 haplotypes and CFTR function are associated with sinus disease or the need for sinus surgery in individuals with CF. We conducted a retrospective study using prospectively collected data from the CF Twin-Sibling Study. The function of CFTR was assessed via chloride conductance. Genotyping of the TAS2R38 gene identified patients who were homozygous for the functional haplotype, heterozygous, or homozygous for nonfunctional haplotypes. Clustered multivariate logistic regression was performed, controlling for sex and family relationship. A total of 1291 patients were evaluated. Patients with ≤1% CFTR function were 1.56 times more likely to require sinus surgery than those with >1% CFTR function (p = 0.049). CFTR function did not correlate significantly with the presence of sinus disease (p = 0.30). In addition, there were no statistically significant differences in diagnosis of sinus disease or need for sinus surgery between patients with functional and nonfunctional TAS2R38 haplotypes. CFTR function correlates with need for sinus surgery, whereas TAS2R38 function does not appear to contribute to sinus disease or the need for sinus surgery in patients with CF.
Sections du résumé
BACKGROUND
Chronic rhinosinusitis symptomatology begins in early childhood individuals with cystic fibrosis (CF). Cystic fibrosis transmembrane conductance regulator (CFTR) function contributes to sinus development and disease. Genetic variants of the bitter taste receptor TAS2R38 have been suggested to contribute to sinus disease severity in individuals without CF. Our objective was to explore whether functional TAS2R38 haplotypes and CFTR function are associated with sinus disease or the need for sinus surgery in individuals with CF.
METHODS
We conducted a retrospective study using prospectively collected data from the CF Twin-Sibling Study. The function of CFTR was assessed via chloride conductance. Genotyping of the TAS2R38 gene identified patients who were homozygous for the functional haplotype, heterozygous, or homozygous for nonfunctional haplotypes. Clustered multivariate logistic regression was performed, controlling for sex and family relationship.
RESULTS
A total of 1291 patients were evaluated. Patients with ≤1% CFTR function were 1.56 times more likely to require sinus surgery than those with >1% CFTR function (p = 0.049). CFTR function did not correlate significantly with the presence of sinus disease (p = 0.30). In addition, there were no statistically significant differences in diagnosis of sinus disease or need for sinus surgery between patients with functional and nonfunctional TAS2R38 haplotypes.
CONCLUSION
CFTR function correlates with need for sinus surgery, whereas TAS2R38 function does not appear to contribute to sinus disease or the need for sinus surgery in patients with CF.
Identifiants
pubmed: 32282124
doi: 10.1002/alr.22548
pmc: PMC7266728
mid: NIHMS1574894
doi:
Substances chimiques
CFTR protein, human
0
Receptors, G-Protein-Coupled
0
taste receptors, type 2
0
Cystic Fibrosis Transmembrane Conductance Regulator
126880-72-6
Types de publication
Journal Article
Observational Study
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Twin Study
Langues
eng
Sous-ensembles de citation
IM
Pagination
748-754Subventions
Organisme : NHLBI NIH HHS
ID : P01 HL114471
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL114800
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL128475
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR003017
Pays : United States
Informations de copyright
© 2020 ARS-AAOA, LLC.
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