T2R38 genotype is correlated with sinonasal quality of life in homozygous ΔF508 cystic fibrosis patients.

Autor: Adappa ND; Department of Otorhinolaryngology-Head and Neck Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Workman AD; Department of Otorhinolaryngology-Head and Neck Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Hadjiliadis D; Paul F. Harron Jr. Lung Center, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Dorgan DJ; Paul F. Harron Jr. Lung Center, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Frame D; Paul F. Harron Jr. Lung Center, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Brooks S; Department of Otorhinolaryngology-Head and Neck Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Doghramji L; Department of Otorhinolaryngology-Head and Neck Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Palmer JN; Department of Otorhinolaryngology-Head and Neck Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Mansfield C; Monell Smell and Taste Center, Philadelphia, PA., Reed DR; Monell Smell and Taste Center, Philadelphia, PA., Cohen NA; Department of Otorhinolaryngology-Head and Neck Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.; Monell Smell and Taste Center, Philadelphia, PA.; Philadelphia Veterans Affairs Medical Center, Philadelphia, PA.
Jazyk: angličtina
Zdroj: International forum of allergy & rhinology [Int Forum Allergy Rhinol] 2016 Apr; Vol. 6 (4), pp. 356-61. Date of Electronic Publication: 2015 Dec 17.
DOI: 10.1002/alr.21675
Abstrakt: Background: Chronic rhinosinusitis (CRS) is very prevalent in the cystic fibrosis (CF) patient population, and leads to high morbidity and markedly decreased quality of life (QOL). Identification of genetic markers that contribute to CRS symptoms in these patients can allow for risk stratification and tailoring of medical and surgical treatments. T2R38 is a bitter taste receptor expressed in the sinonasal tract, and nonfunctional alleles of this receptor have been implicated in treatment-refractory CRS in non-CF patients. The purpose of this study is to investigate the significance of T2R38 genotype in the variability of sinonasal QOL and CRS disease severity in a sample of CF patients.
Methods: ΔF508 homozygous CF patients were recruited from the University of Pennsylvania Cystic Fibrosis Center and were genotyped for the TAS2R38 locus. To assess sinonasal symptom severity, a 22-item Sino-Nasal Outcome Test (SNOT-22) was collected from each patient. Additional demographic and medical history data was obtained at the time of patient enrollment.
Results: A total of 49 ΔF508 homozygous CF patients aged 18 to 32 years were included in the final SNOT-22 score analysis. Individuals with 2 functional T2R38 alleles (PAV/PAV) had significantly lower SNOT-22 scores (n = 49, p < 0.05). On further breakdown of SNOT-22 subcategories, rhinologic symptoms specifically were less severe in PAV/PAV patients than patients with other genotypes (n = 47, p < 0.05).
Conclusion: Our investigation indicates that T2R38 genotype correlates both with SNOT-22 scores and rhinologic-specific QOL in ΔF508 homozygous CF patients.
(© 2015 ARS-AAOA, LLC.)
Databáze: MEDLINE
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