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Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome 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-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 Fibrosi pulmonar Genètica mèdica Pulmonary fibrosis Medical genetics 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. 2022-01-27T16:53:31Z 2022-01-27T16:53:31Z 2021-11-19 2022-01-25T12:51:10Z info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Reproducció del document publicat a: https://doi.org/10.1038/s41598-021-01992-y Scientific Reports, 2021, vol 11, num 1 https://doi.org/10.1038/s41598-021-01992-y info:eu-repo/grantAgreement/EC/H2020/734899/EU//Olive-Net cc by (c) Remuzgo Martínez, Sara et al, 2021 http://creativecommons.org/licenses/by/3.0/es/ info:eu-repo/semantics/openAccess Springer Science and Business Media LLC Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))