Influence of MUC5B gene on antisynthetase syndrome
| Autor: | Fernanda Hernandez-Gonzalez, Verónica Mijares, Leticia Lera-Gómez, Albert Selva-O'Callaghan, Julia Martínez-Barrio, Francisco Javier López-Longo, Sergio Prieto-González, Alicia De Pablo Gafas, Antonio Mera-Varela, Javier Narváez, Santos Castañeda, Ignacio Grafia, Jaime Calvo-Alén, María Aránzazu Alfranca González, Virginia Pérez, Gema Bonilla, Sonia María Fernández Rozas, Víctor Manuel Mora Cuesta, Nair Pérez Gómez, José M. Cifrián, Raquel López-Mejías, María Piedad Usetti, Miguel A. González-Gay, Olga Sánchez-Pernaute, Laura Nuño, Lorenzo Cavagna, Rosalía Laporta, Sara Remuzgo-Martínez, Fredeswinda Romero-Bueno, Verónica Pulito-Cueto, Oreste Gualillo, Ernesto Trallero-Araguás, Alejandro Balsa, Fernanda Genre, Javier Llorca, David Iturbe Fernández, Norberto Ortego-Centeno |
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| Přispěvatelé: | European Commission, Universidad de Cantabria, UAM. Departamento de Medicina, Instituto de Investigación Sanitaria Fundación Jiménez Díaz (ISS-FJD), Instituto de Investigación Sanitaria Hospital Universitario de La Princesa (IIS-IP), Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD) |
| Rok vydání: | 2020 |
| Předmět: |
Male
Autoimmune diseases lcsh:Medicine Antisynthetase syndrome pulmonary-fibrosis Gastroenterology Idiopathic pulmonary fibrosis Rheumatic diseases 0302 clinical medicine Usual interstitial pneumonia Pulmonary fibrosis Medicine 030212 general & internal medicine Promoter Regions Genetic lcsh:Science Multidisciplinary pneumonias Malalties autoimmunitàries Incidence Interstitial lung disease Fibrosi pulmonar cohort Middle Aged respiratory system Mucin-5B 3. Good health Rheumatoid arthritis Cohort Female Hypersensitivity pneumonitis Adult medicine.medical_specialty Medicina interstitial lung-disease pattern Polymorphism Single Nucleotide behavioral disciplines and activities Article 03 medical and health sciences Rheumatology systemic-sclerosis Internal medicine Humans features 030203 arthritis & rheumatology Myositis business.industry lcsh:R mucins medicine.disease respiratory tract diseases promoter polymorphism body regions lcsh:Q Lung Diseases Interstitial business Follow-Up Studies |
| Zdroj: | Addi. Archivo Digital para la Docencia y la Investigación Universidad de Cantabria (UC) instname Dipòsit Digital de Documents de la UAB Universitat Autònoma de Barcelona Scientific Reports, Vol 10, Iss 1, Pp 1-6 (2020) Dipòsit Digital de la UB Universidad de Barcelona Scientific Reports 10, Article number: 1415 (2020) UCrea Repositorio Abierto de la Universidad de Cantabria Scientific Reports Addi: Archivo Digital para la Docencia y la Investigación Universidad del País Vasco Biblos-e Archivo: Repositorio Institucional de la UAM Universidad Autónoma de Madrid Biblos-e Archivo. Repositorio Institucional de la UAM |
| Popis: | 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 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 |
| Databáze: | OpenAIRE |
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