dc.contributor.author | López Mejías, Raquel | |
dc.contributor.author | Remuzgo Martínez, Sara | |
dc.contributor.author | Genre, Fernanda | |
dc.contributor.author | Pulito Cueto, Verónica | |
dc.contributor.author | Fernández Rozas, Sonia M. | |
dc.contributor.author | Llorca, Javier | |
dc.contributor.author | Iturbe Fernández, David | |
dc.contributor.author | Mora Cuesta, Víctor M. | |
dc.contributor.author | Ortego Centeno, Norberto | |
dc.contributor.author | Pérez Gómez, Nair | |
dc.contributor.author | Mera-Varela, Antonio | |
dc.contributor.author | Martínez-Barrio, Julia | |
dc.contributor.author | López-Longo, Francisco Javier | |
dc.contributor.author | Mijares, Verónica | |
dc.contributor.author | Lera-Gómez, Leticia | |
dc.contributor.author | Usetti, Maria Piedad | |
dc.contributor.author | Laporta, Rosalía | |
dc.contributor.author | Pérez, Virginia | |
dc.contributor.author | De Pablo Gafas, Alicia | |
dc.contributor.author | Alfranca González, Arantzazu | |
dc.contributor.author | Calvo-Alén, Jaime | |
dc.contributor.author | Romero-Bueno, Fredeswinda | |
dc.contributor.author | Sánchez-Pernaute, Olga | |
dc.contributor.author | Nuno, Laura | |
dc.contributor.author | Bonilla, Gema | |
dc.contributor.author | Balsa Criado, Alejandro | |
dc.contributor.author | Hernández-González, Fernanda | |
dc.contributor.author | Grafia, Ignacio | |
dc.contributor.author | Prieto-González, Sergio | |
dc.contributor.author | Narváez, Javier | |
dc.contributor.author | Trallero-Araguas, Ernesto | |
dc.contributor.author | Selva-O’Callaghan, Albert | |
dc.contributor.author | Gualillo, Oreste | |
dc.contributor.author | Castañeda Sanz, Santos | |
dc.contributor.author | Cavagna, Lorenzo | |
dc.contributor.author | Cifrian, José M. | |
dc.contributor.author | González-Gay, Miguel A. | |
dc.contributor.other | UAM. Departamento de Medicina | es_ES |
dc.contributor.other | Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD) | es_ES |
dc.contributor.other | Instituto de Investigación Sanitaria Hospital Universitario de La Princesa (IIS-IP) | es_ES |
dc.date.accessioned | 2020-12-02T08:09:02Z | |
dc.date.available | 2020-12-02T08:09:02Z | |
dc.date.issued | 2020-01-29 | |
dc.identifier.citation | Scientific Reports 10 (2019): 1415 | en_US |
dc.identifier.issn | 2045-2322 | es_ES |
dc.identifier.uri | http://hdl.handle.net/10486/692628 | |
dc.description.abstract | MUC5B rs35705950 (G/T) is strongly associated with idiopathic pulmonary fibrosis (IPF) and also contributes
to the risk of interstitial lung disease (ILD) in rheumatoid arthritis (RA-ILD) and chronic hypersensitivity
pneumonitis (CHP). Due to this, we evaluated the implication of MUC5B rs35705950 in antisynthetase
syndrome (ASSD), a pathology characterised by a high ILD incidence. 160 patients with ASSD (142 with ILD
associated with ASSD [ASSD-ILD+]), 232 with ILD unrelated to ASSD (comprising 161 IPF, 27 RA-ILD and
44 CHP) and 534 healthy controls were genotyped. MUC5B rs35705950 frequency did not significantly differ
between ASSD-ILD+ patients and healthy controls nor when ASSD patients were stratified according to
the presence/absence of anti Jo-1 antibodies or ILD. No significant differences in MUC5B rs35705950 were
also observed in ASSD-ILD+ patients with a usual interstitial pneumonia (UIP) pattern when compared to
those with a non-UIP pattern. However, a statistically significant decrease of MUC5B rs35705950 GT, TT
and T frequencies in ASSD-ILD+ patients compared to patients with ILD unrelated to ASSD was observed.
In summary, our study does not support a role of MUC5B rs35705950 in ASSD. It also indicates that there
are genetic differences between ILD associated with and that unrelated to ASSD | en_US |
dc.description.sponsorship | This study
was partially supported by grants from the Foundation for Research in Rheumatology (FOREUM). RL-M is a
recipient of a Miguel Servet type I programme fellowship from the ‘Instituto de Salud Carlos III’ (ISCIII), cofunded
by the European Social Fund (ESF, ‘Investing in your future’) (grant CP16/00033). SR-M is supported
by funds of the RETICS Program (RD16/0012/0009), co-funded by the European Regional Development Fund
(ERDF). VP-C is supported by a pre-doctoral grant from IDIVAL (PREVAL 18/01). VM is supported by funds
of a Miguel Servet type I programme (grant CP16/00033) (ISCIII, co-funded by ESF). LL-G is supported by
funds of PI18/00042 (ISCIII, co-funded by ERDF). OG is Staff Personnel of Xunta de Galicia (Servizo Galego
de Saude, SERGAS) through a research-staff stabilization contract (ISCIII/SERGAS). OG,is member of RETICS
Programme, RD16/0012/0014 (RIER: Red de Investigación en Inflamación y Enfermedades Reumáticas)
via Instituto de Salud Carlos III (ISCIII) and FEDER. The work of OG (PI17/00409), was funded by Instituto
de Salud Carlos III and FEDER. OG is a beneficiary of a project funded by Research Executive Agency of the
European Union in the framework of MSCA-RISE Action of the H2020 Programme (Project number 734899).
OG is beneficiary of a grant funded by Xunta de Galicia, Consellería de Educación, Universidade e Formación
Profesional and Consellería de Economía, Emprego e Industria (GAIN), GPC IN607B2019/10 | en_US |
dc.format.extent | 6 pag. | es_ES |
dc.format.mimetype | application/pdf | en |
dc.language.iso | eng | en_US |
dc.publisher | Nature Research | en_US |
dc.relation.ispartof | Scientific Reports | en_US |
dc.rights | © 2020 The Authors | en_US |
dc.subject.other | interstitial lung-disease | en_US |
dc.subject.other | promoter polymorphism | en_US |
dc.subject.other | pulmonary-fibrosis | en_US |
dc.subject.other | systemic-sclerosis | en_US |
dc.subject.other | pneumonias | en_US |
dc.subject.other | features | en_US |
dc.subject.other | pattern | en_US |
dc.subject.other | cohort | en_US |
dc.subject.other | mucins | en_US |
dc.title | Influence of MUC5B gene on antisynthetase syndrome | en_US |
dc.type | article | en |
dc.subject.eciencia | Medicina | es_ES |
dc.relation.publisherversion | http://doi.org/10.1038/s41598-020-58400-0 | es_ES |
dc.identifier.doi | 10.1038/s41598-020-58400-0 | es_ES |
dc.identifier.publicationfirstpage | 1415-1 | es_ES |
dc.identifier.publicationlastpage | 1415-6 | es_ES |
dc.identifier.publicationvolume | 10 | es_ES |
dc.relation.projectID | Gobierno de España. CP16/00033 | es_ES |
dc.type.version | info:eu-repo/semantics/publishedVersion | en |
dc.rights.cc | Reconocimiento | es_ES |
dc.rights.accessRights | openAccess | en |
dc.authorUAM | Ussetti Gil, Piedad (100016) | |
dc.authorUAM | Laporta Hernández, Rosalía (103469) | |
dc.authorUAM | Romero Bueno, Fredeswinda Isabel (262716) | |
dc.authorUAM | Balsa Criado, Alejandro (259517) | |
dc.authorUAM | Castañeda Sanz, Santos (325100) | |
dc.facultadUAM | Facultad de Medicina | |
dc.institutoUAM | Instituto de Investigación Sanitaria Fundación Jiménez Díaz (ISS-FJD) | |
dc.institutoUAM | Instituto de Investigación Sanitaria Hospital Universitario de La Princesa (IIS-Princesa) | |