Julij Gyula Šelb (Author), Katarina Osolnik (Author), Izidor Kern (Author), Peter Korošec (Author), Matija Rijavec (Author)

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.

Keywords

telomerazni kompleks;telomerase complex;

Data

Language: English
Year of publishing:
Typology: 1.01 - Original Scientific Article
Publisher: MDPI
UDC: 575
COBISS: 94898435 Link will open in a new window
ISSN: 2073-4409
Views: 263
Downloads: 104
Average score: 0 (0 votes)
Metadata: JSON JSON-RDF JSON-LD TURTLE N-TRIPLES XML RDFA MICRODATA DC-XML DC-RDF RDF

Other data

Secondary keywords: Telomerase;Idiopathic pulmonary fibrosis;Genetic variation;Telomeraza;Idiopatska pljučna fibroza;Genetska raznolikost;
Source comment: Nasl. z nasl. zaslona; Soavtorji: Katarina Osolnik, Izidor Kern, Peter Korošec, Matija Rijavec; Opis vira z dne 25. 1. 2022;
Pages: str. 1-9
Volume: ǂVol. ǂ11
Issue: ǂiss. ǂ3
Chronology: Feb. 2022
DOI: 10.3390/cells11030372
ID: 14469166