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.
Int Arch Allergy Immunol

中文翻译：

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原发性睫状运动障碍：味觉受体（TAS2R38）基因多态性对疾病结果和严重程度的影响。

背景：原发性睫状运动障碍（PCD）是一种罕见的遗传疾病，可导致上呼吸道和下呼吸道的反复呼吸道感染。慢性鼻-鼻窦炎（CRS）和支气管扩张在PCD患者中非常常见。最近，已显示呼吸道中存在味觉受体，并且苦味受体TAS2R38基因可能与呼吸道感染和鼻-鼻窦炎的易感性有关。目的：本研究旨在评估PCD患者中TAS2R38基因多态性的频率及其与疾病临床结果的可能相关性。方法：收集了35名PCD患者的遗传和表型数据。临床评估包括出生时的新生儿呼吸窘迫（NRD），存在逆位，CRS和支气管扩张。我们还测量了每年呼吸道感染的数量以及相关的病原体，Lund-Mackay评分，FEV ₁和改良的Bhalla评分。关于遗传数据，分析了TAS2R38基因内的3个多态性（rs1726866，rs713598和rs10246939），并将患者分为PAV / PAV，PAV / AVI和AVI / AVI。结果：在有和没有NRD的患者之间，TAS2R38单倍型的分布出现了显着差异（p值= 0.01）。与具有AVI / AVI和AVI / PAV单倍型的人相比，PAV / PAV个体显示出频繁的呼吸急性发作（≥2/年）（p值= 0.04）的百分比更低。而且，没有纯合PAV / PAV单倍型的患者出现铜绿假单胞菌的慢性定植，因此支持TAS2R38基因在呼吸道感染易感性中的可能作用。结论：在此，我们首次报道了TAS2R38基因多态性与PCD表型的可能联系。
Int Arch过敏免疫