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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorRemuzgo-Martínez, Sara
dc.contributor.authorAtienza-Mateo, Belén
dc.contributor.authorOcejo‑Vinyals, J. Gonzalo
dc.contributor.authorGenre, Fernanda
dc.contributor.authorPulito-Cueto, Verónica
dc.contributor.authorMora Cuesta, Víctor Manuel
dc.contributor.authorTrallero Araguas, Ernesto
dc.contributor.authorSelva O'Callaghan, Albert
dc.date.accessioned2022-05-31T09:00:28Z
dc.date.available2022-05-31T09:00:28Z
dc.date.issued2021-11-19
dc.identifier.citationRemuzgo-Martínez S, Atienza-Mateo B, Ocejo-Vinyals JG, Genre F, Pulito-Cueto V, Mora-Cuesta VM, et al. Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome. Sci Rep. 2021 Nov 19;11:22574.
dc.identifier.issn2045-2322
dc.identifier.urihttp://hdl.handle.net/11351/7603
dc.descriptionBiomarkers; Idiopathic inflammatory myopathies
dc.description.abstractMucin 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.
dc.language.isoeng
dc.publisherNature Research
dc.relation.ispartofseriesScientific reports;11
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScientia
dc.subjectPolimorfisme genètic
dc.subjectPulmons - Malalties - Aspectes genètics
dc.subjectMalalties autoimmunitàries - Aspectes genètics
dc.subject.meshLung Diseases, Interstitial
dc.subject.meshPolymorphism, Single Nucleotide
dc.subject.meshDiagnosis, Differential
dc.titleRole of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1038/s41598-021-01992-y
dc.subject.decsenfermedades pulmonares intersticiales
dc.subject.decspolimorfismo de nucleótido único
dc.subject.decsdiagnóstico diferencial
dc.relation.publishversionhttps://doi.org/10.1038/s41598-021-01992-y
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[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
dc.identifier.pmid34799647
dc.identifier.wos000720679400011
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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