000K utf8 1100 2021$c2021-02-27 1500 eng 2050 urn:nbn:de:hbz:465-20240828-114459-7 2051 10.1186/s13023-021-01750-3 3000 Bonella, Francesco 3010 Boerner, Eda 3010 Campo, Ilaria 3010 Costabel, Ulrich 3010 Ohshimo, Shinichiro 3010 Taube, Christian 3010 Theegarten, Dirk 3010 Zorzetto, Michele 4000 Potential clinical utility of MUC5B und TOLLIP single nucleotide polymorphisms (SNPs) in the management of patients with IPF [Bonella, Francesco] 4209 Background: Genetic variants of TOLLIP and MUC5B, both on chromosome 11, have been reported to be associated with the development and/or prognosis of idiopathic pulmonary fibrosis (IPF). This retrospective study was conducted to investigate the association of MUC5B and TOLLIP SNPs with disease outcome in IPF. 62 IPF patients and 50 healthy controls (HC) from our Institution were genotyped for SNPs within MUC5B (rs35705950) and TOLLIP (rs3750920 and rs5743890). Correlation of SNPs genotypes with survival, acute exacerbation (AE) or disease progression (defined as a decline of ≥ 5% in FVC and or ≥ 10% in DLco in one year) was investigated. Results: The MUC5B rs35705950 minor allele (T) was more frequent in IPF subjects than in HC (35% vs 9% p < 0.001). TOLLIP SNPs alleles and genotype distribution did not differ between IPF and HC and did not vary according to gender, age, BMI and lung functional impairment at baseline. The minor allele (C) in TOLLIP rs5743890 was associated with worse survival and with disease progression in all performed analyses. The MUC5B rs35705950 or the TOLLIP rs3750920 minor allele, were not associated with disease progression or AE. Conclusion: We confirm that the minor allele of MUC5B rs35705950 is associated with IPF. The minor allele of TOLLIP rs5743890 appears to be a predictor of worse survival and more rapid disease progression, therefore being of potential utility to stratify IPF patients at baseline. 4950 https://doi.org/10.1186/s13023-021-01750-3$xR$3Volltext$534 4950 https://nbn-resolving.org/urn:nbn:de:hbz:465-20240828-114459-7$xR$3Volltext$534 4961 https://duepublico2.uni-due.de/receive/duepublico_mods_00077608 5051 610 5550 Disease progression 5550 IPF 5550 MUC5B 5550 TOLLIP