Cystic fibrosis transmembrane conductance regulator function, notTAS2R38gene haplotypes, predict sinus surgery in children and young adults with cystic fibrosis
| Autor: | Karen S. Raraigh, Steven S. An, Melis Atalar Aksit, Nicholas M. Dalesio, Joseph M. Collaco, Sharon A. McGrath-Morrow, Kwangmi Ahn, Garry R. Cutting, Pamela L. Zeitlin |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Adult
Male medicine.medical_specialty Adolescent Cystic Fibrosis Nasal Surgical Procedures Cystic Fibrosis Transmembrane Conductance Regulator Disease Cystic fibrosis Gastroenterology Article Receptors G-Protein-Coupled Young Adult 03 medical and health sciences 0302 clinical medicine Internal medicine Paranasal Sinuses medicine Humans Immunology and Allergy Sinusitis Young adult Child 030223 otorhinolaryngology Sinus (anatomy) Retrospective Studies biology business.industry Haplotype Infant Retrospective cohort study Middle Aged medicine.disease Cystic fibrosis transmembrane conductance regulator medicine.anatomical_structure Haplotypes 030228 respiratory system Otorhinolaryngology Child Preschool biology.protein Female business |
| Zdroj: | Int Forum Allergy Rhinol |
| ISSN: | 2042-6984 2042-6976 |
| DOI: | 10.1002/alr.22548 |
| Popis: | 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 cystic fibrosis transmembrane conductance regulator (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 significantly correlate 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 non-functional TAS2R38 haplotypes. CONCLUSIONS: CFTR function correlates to 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|