In:
International Archives of Allergy and Immunology, S. Karger AG, Vol. 181, No. 9 ( 2020), p. 727-731
Kurzfassung:
〈 b 〉 〈 i 〉 Background: 〈 /i 〉 〈 /b 〉 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 〈 i 〉 TAS2R38 〈 /i 〉 gene in susceptibility to respiratory infections and rhinosinusitis. 〈 b 〉 〈 i 〉 Objective: 〈 /i 〉 〈 /b 〉 Aim of this study was to evaluate the frequency of 〈 i 〉 TAS2R38 〈 /i 〉 polymorphisms in PCD patients and their possible correlations with clinical outcomes of the disease. 〈 b 〉 〈 i 〉 Methods: 〈 /i 〉 〈 /b 〉 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, FEV 〈 sub 〉 1 〈 /sub 〉 , and modified Bhalla score. With regard to genetics data, 3 polymorphisms (rs1726866, rs713598, and rs10246939) within 〈 i 〉 TAS2R38 〈 /i 〉 gene were analyzed and the patients were classified as PAV/PAV, PAV/AVI, and AVI/AVI. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 A significant difference in the distribution of 〈 i 〉 TAS2R38 〈 /i 〉 haplotype between patients with and without NRD emerged ( 〈 i 〉 p 〈 /i 〉 value = 0.01). A lower percentage of PAV/PAV individuals showed frequent respiratory exacerbations (≥2/year) ( 〈 i 〉 p 〈 /i 〉 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 〈 i 〉 Pseudomonas aeruginosa, 〈 /i 〉 thus supporting the possible role of 〈 i 〉 TAS2R38 gene 〈 /i 〉 in susceptibility to respiratory infections. 〈 b 〉 〈 i 〉 Conclusions: 〈 /i 〉 〈 /b 〉 Here, we report, for the first time, a possible association of 〈 i 〉 TAS2R38 〈 /i 〉 polymorphisms with PCD phenotype.
Materialart:
Online-Ressource
ISSN:
1018-2438
,
1423-0097
Sprache:
Englisch
Verlag:
S. Karger AG
Publikationsdatum:
2020
ZDB Id:
1482722-0
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