Investigation of telomere related gene mutations in idiopathic pulmonary fibrosis
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ORIGINAL ARTICLE
Investigation of telomere related gene mutations in idiopathic pulmonary fibrosis Halime Yildirim1 · Pinar Yildiz2 · Ender Coskunpinar1 Received: 21 July 2020 / Accepted: 24 September 2020 © Springer Nature B.V. 2020
Abstract Idiopathic Pulmonary Fibrosis (IPF) is the most common type of Idiopathic Interstitial Pneumonias (IIP). The aim of this study is to determine the mutation of variants in four telomere-related genes and to determine the possible relationship between these mutations and telomere shortening in order to contribute to the understanding of the pathophysiology of IPF. For this study, 34 individuals with IPF, 32 individuals with non-IPF ILD (Interstitial Lung Disease), and 31 healthy controls between the ages of 40 and 85 were included. The mutation analysis and telomere measurements were examined for the volunteers. According to the mutation screening results, no significant difference was found between the patients with IPF, non-IPF ILD groups and healthy individuals in terms of genotyping analysis. However, in terms of the allele distribution for two genes, statistically significant difference was found in IPF and non-IPF ILD patients (TERT; p = 0.002 and TERC; p = 0.001). According to the telomere length measurement, the telomeres of the patients were shorter than of the control group (p = 0.0001). In compliance with the results of our analysis, it is thought that genes that have allelic significance from the point of gene mutations as well as telomere shortening may be risk factors for the disease. Keywords Mutation · Idiopathic pulmonary fibrosis · Telomere shortening · Genetics
Introduction Idiopathic Pulmonary Fibrosis (IPF) is one of the most common and devastating types of Idiopathic Interstitial Pneumonias (IIP), a member of Interstitial Lung Diseases (ILD) [1]. It is hard to seperate IPF from non-IPF ILD by virtue of similar clinical, pathological and radiological features [2]. UIP is a histopathological pattern characterized by honeycombing, ground glass opacities and fine reticulation, traction bronchiectasis and bronchiectasis. UIP pattern in high resolution CT scan and pathological evaluation with clinical data are considerable in diagnosis of IPF [2, 3]. The survival approximately between 3–5 years after diagnosis as well as pretty high morbidity and mortality rates. Furthermore, this illness predominantly affects male, specifically males over * Ender Coskunpinar [email protected] 1
School of Medicine, Department of Medical Biology, University of Health Sciences Turkey, Istanbul, Turkey
Chest Diseases, Yedikule Chest Diseases and Thoracic Surgery Training and Research Hospital, University of Health Sciences, Istanbul, Turkey
2
the age of 50. In Pulmonary parenchymal tissue, there is phenotypic dyspnea and hypoxemia in conjunction with progressive and irreversible wound formination. [4]. The incidence rates are 1.2/100,000 to 90.6/100,000 per year, along with many discrepancies on prevalence and incidence rates in several studies. According to
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