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The clinical manifestation of cystic fibrosis (CF) is heterogeneous also in patients with the same  cystic fibrosis transmembrane regulator (CFTR)  genotype and in affected sibling pairs. Other genes, inherited independently of  CFTR , may modulate the clinical manifestation and complications of patients with CF, including the severity of chronic sinonasal disease and the occurrence of chronic  Pseudomonas aeruginosa  colonization. The  T2R38  gene encodes a taste receptor and recently its functionality was related to the occurrence of sinonasal diseases and upper respiratory infections. We assessed the  T2R38  genotype in 210 patients with CF and in 95 controls, relating the genotype to the severity of sinonasal disease and to the occurrence of  P. aeruginosa  pulmonary colonization. The frequency of the PAV allele i.e., the allele associated with the high functionality of the T2R38 protein, was significantly lower in i) CF patients with nasal polyposis requiring surgery, especially in patients who developed the complication before 14 years of age; and ii) in CF patients with chronic pulmonary colonization by  P. aeruginosa , especially in patients who were colonized before 14 years of age, than in control subjects. These data suggest a role for  T2R38  as a novel modifier gene of sinonasal disease severity and of pulmonary  P. aeruginosa  colonization in patients with CF.

TAS2R38 is a novel modifier gene in patients with cystic fibrosis