20.500.12556/DiRROS-14739 Utility of telomerase gene mutation testing in patients with idiopathic pulmonary fibrosis in routine practice 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. telomerase idiopathic pulmonary fibrosis genetic variation telomerase complex telomeraza idiopatska pljučna fibroza genetska raznolikost telomerazni kompleks true false true MDPI Angleški jezik Ni določen © 2022 by the authors Neznano 2022-02-07 14:00:27 2022-02-07 14:00:28 2022-08-20 03:37:33 0000-00-00 00:00:00 2022 0 Švica 0 Nasl. z nasl. zaslona; Soavtorji: Katarina Osolnik, Izidor Kern, Peter Korošec, Matija Rijavec; Opis vira z dne 25. 1. 2022; str. 1-9 iss. 3 Vol. 11 Feb. 2022 0000-00-00 PostprintKoncna Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 575 2073-4409 10.3390/cells11030372 94898435 RAZ_Selb_Julij_i2022.pdf RAZ_Selb_Julij_i2022.pdf 1 A084D907FA06472B024F48CB8D9109E3 74b10e1730f1469c08a59916e20e42823ad16094e54f79ff978b02bb4ff16c21 d0de47ab-17b6-11ed-b6b8-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=18957 Univerzitetna klinika za pljučne bolezni in alergijo Golnik 0 0 0