학술논문
Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome
Document Type
Original Paper
Author
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, Laura; Bonilla, Gema; Vicente-Rabaneda, Esther F.; Grafia, Ignacio; Prieto-González, Sergio; Narvaez, Javier; Trallero-Araguas, Ernesto; Selva-O’Callaghan, Albert; Gualillo, Oreste; Cavagna, Lorenzo; Cifrián, José M.; Renzoni, Elisabetta A.; Castañeda, Santos; López-Mejías, Raquel; González-Gay, Miguel A.
Source
Scientific Reports. 11(1)
Subject
Language
English
ISSN
2045-2322
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.