@article{10902/23299,
year = {2021},
month = {11},
url = {http://hdl.handle.net/10902/23299},
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.},
publisher = {Nature Publishing Group},
publisher = {Sci Rep 11, 22574 (2021)},
title = {Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome},
author = {Remuzgo Martínez, Sara and Atienza Mateo, Belén  and Ocejo Vinyals, J. Gonzalo and Genre, Fernanda and Pulito Cueto, Verónica and Mora Cuesta, Víctor M. and Iturbe Fernández, David and Lera Gómez, Leticia and Pérez Fernández, Raquel and Prieto Peña, Diana and Irure Ventura, Juan and Romero Bueno, Fredeswinda and Sanchez Pernaute, Olga and Alonso Moralejo, Rodrigo and Nuño, Laura and Bonilla, Gema and Vicente Rabaneda, Esther F. and Grafia, Ignacio and Cifrián Martínez, José Manuel and González-Gay Mantecón, Miguel Ángel},
}