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T2R38 genotype is correlated with sinonasal quality of life in homozygous ΔF508 cystic fibrosis patients
Author(s) -
Adappa Nithin D.,
Workman Alan D.,
Hadjiliadis Denis,
Dorgan Daniel J.,
Frame Danielle,
Brooks Steven,
Doghramji Laurel,
Palmer James N.,
Mansfield Corrine,
Reed Danielle R.,
Cohen Noam A.
Publication year - 2016
Publication title -
international forum of allergy and rhinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.503
H-Index - 46
eISSN - 2042-6984
pISSN - 2042-6976
DOI - 10.1002/alr.21675
Subject(s) - medicine , cystic fibrosis , genotype , allele , gastroenterology , nasal polyps , chronic rhinosinusitis , genetics , gene , biology
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.