Influence of MUC5B gene on antisynthetase syndrome
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, María Piedad | |
dc.contributor.author | Laporta, Rosalía | |
dc.contributor.author | Pérez, Virginia | |
dc.contributor.author | De Pablo Gafas, Alicia | |
dc.contributor.author | Alfranca González, María Aránzazu | |
dc.contributor.author | Calvo Alén, Jaime | |
dc.contributor.author | Romero Bueno, Fredeswinda | |
dc.contributor.author | Sánchez Pernaute, Olga | |
dc.contributor.author | Nuño Nuño, Laura | |
dc.contributor.author | Bonilla, Gema | |
dc.contributor.author | Balsa, Alejandro | |
dc.contributor.author | Hernández González, Fernanda | |
dc.contributor.author | Grafia, Ignacio | |
dc.contributor.author | Prieto González, Sergio | |
dc.contributor.author | Narvaez, Javier | |
dc.contributor.author | Trallero Araguas, Ernesto | |
dc.contributor.author | Selva O’Callaghan, Albert | |
dc.contributor.author | Gualillo, Oreste | |
dc.contributor.author | Castañeda, Santos | |
dc.contributor.author | Cavagna, Lorenzo | |
dc.contributor.author | Cifrian, José M. | |
dc.contributor.author | González Gay, Miguel A. | |
dc.date.accessioned | 2020-05-13T20:59:24Z | |
dc.date.available | 2020-05-13T20:59:24Z | |
dc.date.issued | 2020-01-29 | |
dc.identifier.citation | Scientific reports 10 : (2020) // Article ID 1415 | es_ES |
dc.identifier.issn | 2045-2322 | |
dc.identifier.uri | http://hdl.handle.net/10810/43212 | |
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. | es_ES |
dc.description.sponsorship | We are indebted to the patients and healthy controls for their essential collaboration to this study. We also thank the National DNA Bank Repository (Salamanca) for supplying part of the control samples. 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 Investigacion en Inflamacion y Enfermedades Reumaticas) 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, Conselleri ' a de Educacio ' n, Universidade e Formacio ' n Profesional and Conselleri ' a de Economi ' a, Emprego e Industria (GAIN), GPC IN607B2019/10. | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Nature | es_ES |
dc.relation | info:eu-repo/grantAgreement/EC/H2020/734899 | es_ES |
dc.rights | info:eu-repo/semantics/openAccess | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | * |
dc.subject | interstitial lung-disease | es_ES |
dc.subject | promoter polymorphism | es_ES |
dc.subject | pulmonary-fibrosis | es_ES |
dc.subject | systemic-sclerosis | es_ES |
dc.subject | pneumonias | es_ES |
dc.subject | features | es_ES |
dc.subject | pattern | es_ES |
dc.subject | cohort | es_ES |
dc.subject | mucins | es_ES |
dc.title | Influence of MUC5B gene on antisynthetase syndrome | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.rights.holder | This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Cre- ative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not per- mitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. | es_ES |
dc.rights.holder | Atribución 3.0 España | * |
dc.relation.publisherversion | https://www.nature.com/articles/s41598-020-58400-0 | es_ES |
dc.identifier.doi | 10.1038/s41598-020-58400-0 | |
dc.contributor.funder | European Commission | |
dc.departamentoes | Medicina | es_ES |
dc.departamentoeu | Medikuntza | es_ES |
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