| Title: | Utility of telomerase gene mutation testing in patients with idiopathic pulmonary fibrosis in routine practice |
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| Authors: | ID Šelb, Julij, Klinika Golnik, Medicinska fakulteta UL (Author)
ID Osolnik, Katarina, Klinika Golnik (Author)
ID Kern, Izidor, Klinika Golnik (Author)
ID Korošec, Peter, Klinika Golnik, Fakulteta za farmacijo (Author)
ID Rijavec, Matija, Klinika Golnik, Biotehniška fakulteta UL (Author) |
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| Files: |  PDF - Presentation file, download (236,11 KB)
MD5: A084D907FA06472B024F48CB8D9109E3
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| Language: | English |
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| Typology: | 1.01 - Original Scientific Article |
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| Organization: |  UKPBAG - University Clinic of Respiratory and Allergic Diseases Golnik
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| Abstract: | Recent studies have suggested that causative variants in telomerase complex genes (TCGs) are present in around 10% of individuals with idiopathic pulmonary fibrosis (IPF) regardless of family history of the disease. However, the studies used a case-control rare variant enrichment study design which is not directly translatable to routine practice. To validate the prevalence results and to establish the individual level, routine clinical practice, and utility of those results we performed next generation sequencing of TCGs on a cohort of well-characterized consecutive individuals with IPF (diagnosis established according to ATS/ERS/JRS/ALAT guidelines). Of 27 IPF patients, three had a family history of idiopathic interstitial pneumonia (familial IPF) and 24 did not (sporadic IPF). Pathogenic/likely-pathogenic variants (according to American College of Medical Genetics criteria) in TCG were found in three individuals (11.1%) of the whole cohort; specifically, they were present in 2 out of 24 (8.3%) of the sporadic and in 1 out of 3 (33.3%) of the patients with familial IPF. Our results, which were established on an individual-patient level study design and in routine clinical practice (as opposed to the case-control study design), are roughly in line with the around 10% prevalence of causative TCG variants in patients with IPF. |
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| Keywords: | telomerase, idiopathic pulmonary fibrosis, genetic variation, telomerase complex |
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| Publication status: | Published |
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| Publication version: | Author Accepted Manuscript |
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| Place of publishing: | Švica |
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| Publisher: | MDPI |
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| Year of publishing: | 2022 |
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| Number of pages: | str. 1-9 |
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| Numbering: | Vol. 11, iss. 3 |
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| PID: | 20.500.12556/DiRROS-14739  |
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| UDC: | 575 |
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| ISSN on article: | 2073-4409 |
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| DOI: | 10.3390/cells11030372 |
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| COBISS.SI-ID: | 94898435 |
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| Copyright: | © 2022 by the authors |
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| Note: | Nasl. z nasl. zaslona;
Soavtorji: Katarina Osolnik, Izidor Kern, Peter Korošec, Matija Rijavec;
Opis vira z dne 25. 1. 2022;
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| Publication date in DiRROS: | 07.02.2022 |
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| Views: | 1215 |
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| Downloads: | 495 |
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