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Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome

Abstract: 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.

 Autoría: Remuzgo-Martínez S., Atienza-Mateo B., Ocejo-Vinyals J.G., Genre F., Pulito-Cueto V., Mora-Cuesta V.M., Iturbe-Fernández D., Lera-Gómez L., Pérez-Fernández R., Prieto-Peña D., Irure J., Romero-Bueno F., Sanchez-Pernaute O., Alonso-Moralejo R., Nuño L., Bonilla G., Vicente-Rabaneda E.F., Grafia I., Prieto-González S., Narvaez J., Trallero-Araguas E., Selva-O’Callaghan A., Ortego-Centeno N., Pérez-Gómez N., Mera A., Martínez-Barrio J., Moriano C.

 Fuente: Sci Rep 11, 22574 (2021)

 Editorial: Nature Publishing Group

 Fecha de publicación: 19/11/2021

 Nº de páginas: 8

 Tipo de publicación: Artículo de Revista

 DOI: 10.1038/s41598-021-01992-y

 ISSN: 2045-2322

 Url de la publicación: https://doi.org/10.1038/s41598-021-01992-y