Gioia Piatti1, Umberto Ambrosetti2, Antonietta Robino3, Giorgia Girotto4, Paolo Gasparini4. 1. Department of Pathophysiology and Transplantation, University of Milan and Unit of Bronchopneumology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy, gioia.piatti@unimi.it. 2. Department of Clinical Sciences and Community Health, University of Milan and Division of Audiology, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy. 3. Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy. 4. Department of Medicine, Surgery and Health Sciences, University of Trieste, Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
Abstract
BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare genetic disease leading to recurrent respiratory infections of upper and lower airways. Chronic rhinosinusitis (CRS) and bronchiectasis are very common in PCD patients. Recently, it has been shown the presence of taste receptors in respiratory tract and the possible involvement of bitter taste receptor TAS2R38 gene in susceptibility to respiratory infections and rhinosinusitis. OBJECTIVE: Aim of this study was to evaluate the frequency of TAS2R38 polymorphisms in PCD patients and their possible correlations with clinical outcomes of the disease. METHODS: Genetic and phenotypic data of 35 PCD patients were collected. Clinical evaluation included neonatal respiratory distress (NRD) at birth, presence of situs inversus, CRS, and bronchiectasis. We also measured the number of respiratory infections per year and the relevant pathogens, Lund-Mackay score, FEV1, and modified Bhalla score. With regard to genetics data, 3 polymorphisms (rs1726866, rs713598, and rs10246939) within TAS2R38 gene were analyzed and the patients were classified as PAV/PAV, PAV/AVI, and AVI/AVI. RESULTS: A significant difference in the distribution of TAS2R38 haplotype between patients with and without NRD emerged (p value = 0.01). A lower percentage of PAV/PAV individuals showed frequent respiratory exacerbations (≥2/year) (p value = 0.04) compared to those with AVI/AVI and AVI/PAV haplotypes. Moreover, no patients homozygous for PAV/PAV haplotype presented chronic colonization by Pseudomonas aeruginosa, thus supporting the possible role of TAS2R38 gene in susceptibility to respiratory infections. CONCLUSIONS: Here, we report, for the first time, a possible association of TAS2R38 polymorphisms with PCD phenotype.
BACKGROUND:Primary ciliary dyskinesia (PCD) is a rare genetic disease leading to recurrent respiratory infections of upper and lower airways. Chronic rhinosinusitis (CRS) and bronchiectasis are very common in PCDpatients. Recently, it has been shown the presence of taste receptors in respiratory tract and the possible involvement of bitter taste receptor TAS2R38 gene in susceptibility to respiratory infections and rhinosinusitis. OBJECTIVE: Aim of this study was to evaluate the frequency of TAS2R38 polymorphisms in PCDpatients and their possible correlations with clinical outcomes of the disease. METHODS: Genetic and phenotypic data of 35 PCDpatients were collected. Clinical evaluation included neonatal respiratory distress (NRD) at birth, presence of situs inversus, CRS, and bronchiectasis. We also measured the number of respiratory infections per year and the relevant pathogens, Lund-Mackay score, FEV1, and modified Bhalla score. With regard to genetics data, 3 polymorphisms (rs1726866, rs713598, and rs10246939) within TAS2R38 gene were analyzed and the patients were classified as PAV/PAV, PAV/AVI, and AVI/AVI. RESULTS: A significant difference in the distribution of TAS2R38 haplotype between patients with and without NRD emerged (p value = 0.01). A lower percentage of PAV/PAV individuals showed frequent respiratory exacerbations (≥2/year) (p value = 0.04) compared to those with AVI/AVI and AVI/PAV haplotypes. Moreover, no patients homozygous for PAV/PAV haplotype presented chronic colonization by Pseudomonas aeruginosa, thus supporting the possible role of TAS2R38 gene in susceptibility to respiratory infections. CONCLUSIONS: Here, we report, for the first time, a possible association of TAS2R38 polymorphisms with PCD phenotype.
Authors: Jonathan H Chen; Christopher I Song; Nanki Hura; Anirudh Saraswathula; Stella M Seal; Andrew P Lane; Nicholas R Rowan Journal: Int Forum Allergy Rhinol Date: 2022-01-05 Impact factor: 5.426