title: T2R38 genotype is correlated with sinonasal quality of life in homozygous ΔF508 cystic fibrosis patients.
abstract: 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).
  
  
  CONCLUSIONS
  Our investigation indicates that T2R38 genotype correlates both with SNOT-22 scores and rhinologic-specific QOL in ΔF508 homozygous CF patients.
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
authors.forename: Nithin D
authors.initials: ND
authors.lastname: Adappa
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
authors.forename: Alan D
authors.initials: AD
authors.lastname: Workman
authors.affiliation: Paul F. Harron Jr. Lung Center, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
authors.forename: Denis
authors.initials: D
authors.lastname: Hadjiliadis
authors.affiliation: Paul F. Harron Jr. Lung Center, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Dorgan
authors.affiliation: Paul F. Harron Jr. Lung Center, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
authors.forename: Danielle
authors.initials: D
authors.lastname: Frame
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
authors.forename: Steven
authors.initials: S
authors.lastname: Brooks
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
authors.forename: Laurel
authors.initials: L
authors.lastname: Doghramji
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
authors.forename: James N
authors.initials: JN
authors.lastname: Palmer
authors.affiliation: Monell Smell and Taste Center, Philadelphia, PA.
authors.forename: Corrine
authors.initials: C
authors.lastname: Mansfield
authors.affiliation: Monell Smell and Taste Center, Philadelphia, PA.
authors.forename: Danielle R
authors.initials: DR
authors.lastname: Reed
authors.affiliation: 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.
authors.forename: Noam A
authors.initials: NA
authors.lastname: Cohen
mesh_terms: D000293:Adolescent; D000328:Adult; D002908:Chronic Disease; D003550:Cystic Fibrosis / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D011788:Quality of Life; D043562:Receptors, G-Protein-Coupled / Q000235:genetics*; D012220:Rhinitis / Q000235:genetics*; D012720:Severity of Illness Index; D012852:Sinusitis / Q000235:genetics*; D055815:Young Adult; D000098706:Taste Receptors, Type 2
chemical_list: D043562:Receptors, G-Protein-Coupled; D000098706:Taste Receptors, Type 2
keywords: SNOT-22; T2R38; bitter taste receptor; chronic rhinosinusitis; cystic fibrosis; genetics