Download
s13023-021-01750-3.pdf 1,17MB
WeightNameValue
1000 Titel
  • Potential clinical utility of MUC5B und TOLLIP single nucleotide polymorphisms (SNPs) in the management of patients with IPF
1000 Autor/in
  1. Bonella, Francesco |
  2. Campo, Ilaria |
  3. Zorzetto, Michele |
  4. Boerner, Eda |
  5. Ohshimo, Shinichiro |
  6. Theegarten, Dirk |
  7. Taube, Christian |
  8. Costabel, Ulrich |
1000 Erscheinungsjahr 2021
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2021-02-27
1000 Erschienen in
1000 Quellenangabe
  • 16(1):111
1000 Copyrightjahr
  • 2021
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1186/s13023-021-01750-3 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7913255/ |
1000 Publikationsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • 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.
1000 Sacherschließung
lokal Genetic Predisposition to Disease [MeSH]
lokal Disease progression
lokal Polymorphism, Single Nucleotide [MeSH]
lokal Humans [MeSH]
lokal IPF
lokal Retrospective Studies [MeSH]
lokal Rare pulmonary diseases
lokal Intracellular Signaling Peptides and Proteins/genetics [MeSH]
lokal Idiopathic Pulmonary Fibrosis/genetics [MeSH]
lokal Research
lokal TOLLIP
lokal Genotype [MeSH]
lokal MUC5B
lokal Mucin-5B/genetics [MeSH]
1000 Liste der Beteiligten
  1. https://orcid.org/0000-0001-7579-9767|https://frl.publisso.de/adhoc/uri/Q2FtcG8sIElsYXJpYQ==|https://frl.publisso.de/adhoc/uri/Wm9yemV0dG8sIE1pY2hlbGU=|https://frl.publisso.de/adhoc/uri/Qm9lcm5lciwgRWRh|https://frl.publisso.de/adhoc/uri/T2hzaGltbywgU2hpbmljaGlybw==|https://frl.publisso.de/adhoc/uri/VGhlZWdhcnRlbiwgRGlyaw==|https://frl.publisso.de/adhoc/uri/VGF1YmUsIENocmlzdGlhbg==|https://frl.publisso.de/adhoc/uri/Q29zdGFiZWwsIFVscmljaA==
1000 Hinweis
  • DeepGreen-ID: be95dd3c021541aeab9f0957af35f8d3 ; metadata provieded by: DeepGreen (https://www.oa-deepgreen.de/api/v1/), LIVIVO search scope life sciences (http://z3950.zbmed.de:6210/livivo), Crossref Unified Resource API (https://api.crossref.org/swagger-ui/index.html), to.science.api (https://frl.publisso.de/), ZDB JSON-API (beta) (https://zeitschriftendatenbank.de/api/), lobid - Dateninfrastruktur für Bibliotheken (https://lobid.org/resources/search)
1000 Label
1000 Dateien
1000 Objektart article
1000 Beschrieben durch
1000 @id frl:6464767.rdf
1000 Erstellt am 2023-11-16T06:38:59.639+0100
1000 Erstellt von 322
1000 beschreibt frl:6464767
1000 Zuletzt bearbeitet Fri Dec 01 00:49:12 CET 2023
1000 Objekt bearb. Fri Dec 01 00:49:12 CET 2023
1000 Vgl. frl:6464767
1000 Oai Id
  1. oai:frl.publisso.de:frl:6464767 |
1000 Sichtbarkeit Metadaten public
1000 Sichtbarkeit Daten public
1000 Gegenstand von

View source