2026-04-17T13:15:35Zhttps://recercat.cat/oai/request

oai:recercat.cat:2445/1827282026-03-07T01:16:22Zcom_2072_1057col_2072_478916col_2072_478917

00925njm 22002777a 4500 dc Remuzgo Martínez, Sara author Atienza Mateo, Belén author Ocejo Vinyals, J. Gonzalo author Genre, Fernanda author Pulito Cueto, Verónica author Mora Cuesta, Víctor M. author Iturbe Fernández, David author Lera Gómez, Leticia author Pérez Fernández, Raquel author Prieto Peña, Diana author Irure, Juan author Romero Bueno, Fredeswinda author Sanchez Pernaute, Olga author Alonso Moralejo, Rodrigo author Nuño-Nuño, Laura author Bonilla, Gema author Vicente Rabaneda, Esther F. author Grafia, Ignacio author Prieto González, Sergio author Narváez, Javier author Trallero Araguas, Ernesto author Selva O'Callaghan, Albert author Ortego Centeno, Norberto author Pérez Gómez, Nair author Mera, Antonio author Martínez Barrio, Julia author Moriano, Clara author Díez, Elvira author Calvo Alén, Jaime author Balsa, Alejandro author Ussetti, María Piedad author Laporta, Rosalía author Berastegui, Cristina author Solé, Amparo author Gualillo, Oreste author Cavagna, Lorenzo author Cifrián, José M. author Renzoni, Elisabetta A. author Castañeda, Santos author López Mejías, Raquel author González Gay, Miguel A. author Spanish Biomarkers Of Antisynthetase Syndrome Consortium author Spanish Biomarkers Of Interstitial Lung Disease Consortium author 2022-01-27T16:53:31Z 2022-01-27T16:53:31Z 2021-11-19 2022-01-25T12:51:10Z 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. Fibrosi pulmonar Genètica mèdica Pulmonary fibrosis Medical genetics Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome