Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome
| Autor: | Remuzgo Martínez, Sara, Atienza Mateo, Belén, Ocejo Vinyals, J. Gonzalo, Genre, Fernanda, Pulito Cueto, Verónica, Mora Cuesta, Víctor M., Iturbe Fernández, David, Lera Gómez, Leticia, Pérez Fernández, Raquel, Prieto Peña, Diana, Irure, Juan, Romero Bueno, Fredeswinda, Sanchez Pernaute, Olga, Alonso Moralejo, Rodrigo, Nuño, Laura, Bonilla, Gema, Vicente Rabaneda, Esther F., Grafia, Ignacio, Prieto González, Sergio, Narváez, Javier, Trallero Araguas, Ernesto, Selva O’Callaghan, Albert, Ortego Centeno, Norberto, Pérez Gómez, Nair, Mera, Antonio, Martínez Barrio, Julia, Moriano, Clara, Díez, Elvira, Calvo Alén, Jaime, Balsa, Alejandro, Ussetti, María Piedad, Laporta, Rosalía, Berastegui, Cristina, Solé, Amparo, Gualillo, Oreste, Cavagna, Lorenzo, Cifrián, José M., Renzoni, Elisabetta A., Castañeda, Santos, López Mejías, Raquel, González Gay, Miguel A., Spanish Biomarkers Of Antisynthetase Syndrome Consortium, Spanish Biomarkers Of Interstitial Lung Disease Consortium |
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| Přispěvatelé: | Universidad de Cantabria, Institut Català de la Salut, [Remuzgo-Martínez S, Genre F, Pulito-Cueto V] Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Diseases of the Musculoskeletal System, IDIVAL, 39011 Santander, Spain. [Atienza-Mateo B] Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Diseases of the Musculoskeletal System, IDIVAL, 39011 Santander, Spain. López Albo’ Post Residency Programme, Hospital Universitario Marqués de Valdecilla, Santander, Spain. Rheumatology Department, Hospital Universitario Marqués de Valdecilla, Santander, Spain. [Ocejo-Vinyals JG] Department of Immunology, Hospital Universitario Marqués de Valdecilla, Santander, Spain. [Mora-Cuesta VM] Research Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Diseases of the Musculoskeletal System, IDIVAL, 39011 Santander, Spain. Pneumology Department, Hospital Universitario Marqués de Valdecilla, Santander, Spain. [Trallero-Araguas E] Unitat de Reumatologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Selva-O'Callaghan A] Unitat de Malalties Autoimmunes Sistèmiques, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus |
| Rok vydání: | 2021 |
| Předmět: |
Male
Respiratory Tract Diseases::Lung Diseases::Lung Diseases Interstitial [DISEASES] Antisynthetase syndrome Gastroenterology Idiopathic pulmonary fibrosis Genètica mèdica 0302 clinical medicine fenómenos genéticos::variación genética::polimorfismo genético::polimorfismo de nucleótido único [FENÓMENOS Y PROCESOS] Gene Frequency Polymorphism (computer science) Genotype Malalties autoimmunitàries - Aspectes genètics diagnóstico::diagnóstico diferencial [TÉCNICAS Y EQUIPOS ANALÍTICOS DIAGNÓSTICOS Y TERAPÉUTICOS] 0303 health sciences Multidisciplinary Medical genetics Fibrosi pulmonar Middle Aged respiratory system 3. Good health Up-Regulation medicine.anatomical_structure Phenotype Biomarker (medicine) Medicine Female Adult medicine.medical_specialty Pulmons - Malalties - Aspectes genètics Science Polymorphism Single Nucleotide Article Pulmonary fibrosis Diagnosis Differential 03 medical and health sciences Predictive Value of Tests Internal medicine medicine Humans Genetic Predisposition to Disease Allele Allele frequency Genetic Association Studies 030304 developmental biology 030203 arthritis & rheumatology Genetic Phenomena::Genetic Variation::Polymorphism Genetic::Polymorphism Single Nucleotide [PHENOMENA AND PROCESSES] Lung Myositis business.industry Polimorfisme genètic Mucin-1 medicine.disease Idiopathic Pulmonary Fibrosis respiratory tract diseases Cross-Sectional Studies enfermedades respiratorias::enfermedades pulmonares::enfermedades pulmonares intersticiales [ENFERMEDADES] Spain Case-Control Studies Diagnosis::Diagnosis Differential [ANALYTICAL DIAGNOSTIC AND THERAPEUTIC TECHNIQUES AND EQUIPMENT] business Lung Diseases Interstitial Idiopathic inflammatory myopathies Biomarkers |
| Zdroj: | Sci Rep 11, 22574 (2021) UCrea Repositorio Abierto de la Universidad de Cantabria Universidad de Cantabria (UC) Scientific Reports Scientia Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021) Digibug. Repositorio Institucional de la Universidad de Granada instname Dipòsit Digital de la UB Universidad de Barcelona |
| Popis: | Study partially supported by a grant from Spanish Society of Pulmonology and Thoracic Surgery (SEPAR 474-2017) and from Euronanomed III / Instituto de Salud Carlos III (ISCIII) (AC17/00027) awarded to SC. SR-M is supported by funds of the RETICS Program (RD16/0012/0009) from the ISCIII, co-funded by the European Regional Development Fund. BA-M is recipient of a ‘López Albo’ Post-Residency Programme funded by Servicio Cántabro de Salud. VP-C is supported by a pre-doctoral grant from IDIVAL (PREVAL 18/01). LL-G is supported by funds from IDIVAL (INNVAL 20/06). RP-F is supported by funds of START project (FOREUM18/34). DP-P is a recipient of a Río Hortega programme fellowship from the ISCIII, co-funded by the European Social Fund (ESF, ‘Investing in your future’) (CM20/00006). OG is staff personnel of Xunta de Galicia (Servizo Galego de Saude (SERGAS)) through a research-staff stabilization contract (ISCIII/SERGAS) and his work is funded by ISCIII and the European Union FEDER fund (RD16/0012/0014 (RIER) and PI17/00409). He is beneficiary of project funds from the Research Executive Agency (REA) of the European Union in the framework of MSCA-RISE Action of the H2020 Programme, Project 734899—Olive-Net. RL-M is a recipient of a Miguel Servet type I programme fellowship from the ISCIII, co-funded by the ESF (CP16/00033). Mucin 1/Krebs von den Lungen-6 (KL-6) is proposed as a serum biomarker of several interstitial lung diseases (ILDs), including connective tissue disorders associated with ILD. However, it has not been studied in a large cohort of Caucasian antisynthetase syndrome (ASSD) patients. Consequently, we assessed the role of MUC1 rs4072037 and serum KL-6 levels as a potential biomarker of ASSD susceptibility and for the differential diagnosis between patients with ILD associated with ASSD (ASSD-ILD +) and idiopathic pulmonary fibrosis (IPF). 168 ASSD patients (149 ASSD-ILD +), 174 IPF patients and 523 healthy controls were genotyped for MUC1 rs4072037 T > C. Serum KL-6 levels were determined in a subgroup of individuals. A significant increase of MUC1 rs4072037 CC genotype and C allele frequencies was observed in ASSD patients compared to healthy controls. Likewise, MUC1 rs4072037 TC and CC genotypes and C allele frequencies were significantly different between ASSD-ILD+ and IPF patients. Additionally, serum KL-6 levels were significantly higher in ASSD patients compared to healthy controls. Nevertheless, no differences in serum KL-6 levels were found between ASSD-ILD+ and IPF patients. Our results suggest that the presence of MUC1 rs4072037 C allele increases the risk of ASSD and it could be a useful genetic biomarker for the differential diagnosis between ASSD-ILD+ and IPF patients. European Union FEDER fund PI17/00409 Servicio Cántabro de Salud Servizo Galego de Saude Spanish Society of Pulmonology and Thoracic Surgery SEPAR 474-2017 European Commission EC 734899, CP16/00033 Research Executive Agency Instituto de Salud Carlos III AC17/00027, CM20/00006, RD16/0012/0009, RD16/0012/0014 European Social Fund European Regional Development Fund Foundation for Research in Rheumatology Instituto de Investigación Marqués de Valdecilla INNVAL 20/06, PREVAL 18/01 Servicio Gallego de Salud START, Global Change System for Analysis, Research, and Training FOREUM18/34 |
| Databáze: | OpenAIRE |
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