title: Genetic variations in taste receptors are associated with chronic rhinosinusitis: a replication study.
abstract: BACKGROUND
  Recent evidence implicates polymorphisms of the bitter taste receptor TAS2R38 as defining characteristics in respiratory innate defense that may contribute to the complex genetic and environmental interactions predisposing to chronic rhinosinusitis (CRS). The purpose of this study was to (1) verify whether identified polymorphisms associated with respiratory infection in taste receptors replicate within our existing population of patients with CRS and (2) identify other taste receptors potentially associated with CRS.
  
  
  METHODS
  Pooling-based genomewide association studies (pGWAS) were previously performed on 2 populations of Canadian CRS patients (genetics of chronic rhinosinusitis 1, refractory CRS [GCRS1]; and genetics of chronic rhinosinusitis 2, CRS with nasal polyposis [GCRS2]) using the Illumina HumanHap 1-M chip. The pGWAS data were screened for polymorphisms in taste receptor genes. Single-nucleotide polymorphisms (SNPs) were considered replicated when the allele frequency differences were ≥10% in cases compared to controls.
  
  
  RESULTS
  The previously identified TAS2R38 coding SNP rs10246939 (I296V) was associated with CRS in both populations. The difference in allele frequency in cases compared to control subjects was 11% in GCRS1 and 15% in GCRS2. In addition, 3 previously undescribed missense variants were associated with CRS in our populations: 1 in the TAS2R13 gene (rs1015443), and the others in the TAS2R49 gene (rs12226920, rs12226919).
  
  
  CONCLUSIONS
  This study replicates previous work which showed that the coding SNP rs10246939 in the TAS2R38 gene is associated with CRS. Moreover, the results suggest that other taste receptors may be implicated in CRS. Further studies using individual genotyping and sequencing, and functional studies will provide more information about the implication of these genetic variants in CRS.
authors.affiliation: Department of Otolaryngology, Hôtel-Dieu Hospital, Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), Montreal, QC, Canada.
authors.forename: Leandra
authors.initials: L
authors.lastname: Mfuna Endam
authors.forename: Abdelali
authors.initials: A
authors.lastname: Filali-Mouhim
authors.forename: Pierre
authors.initials: P
authors.lastname: Boisvert
authors.forename: Louis-Philippe
authors.initials: LP
authors.lastname: Boulet
authors.forename: Yohan
authors.initials: Y
authors.lastname: Bossé
authors.forename: Martin
authors.initials: M
authors.lastname: Desrosiers
mesh_terms: D000328:Adult; D002170:Canada; D002908:Chronic Disease; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D009298:Nasal Polyps / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011446:Prospective Studies; D043562:Receptors, G-Protein-Coupled / Q000235:genetics*; D012008:Recurrence; D012220:Rhinitis / Q000235:genetics*; D012852:Sinusitis / Q000235:genetics*; D000098706:Taste Receptors, Type 2
chemical_list: D043562:Receptors, G-Protein-Coupled; D000098706:Taste Receptors, Type 2
keywords: association studies; chronic rhinosinusitis; pooling-based genomewide association study; single-nucleotide polymorphism; taste receptor