Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome
Sara Remuzgo‐Martínez, Belén Atienza‐Mateo, J. Gonzalo Ocejo‐Vinyals, Fernanda Genre, Verónica Pulito‐Cueto, Víctor Manuel Mora Cuesta, David Iturbe‐Fernández, Leticia Lera‐Gómez, Raquel Pérez-Fernández, D. Prieto-Peña, Juan Irure, Fredeswinda Romero-Bueno, Olga Sánchez‐Pernaute, Rodrigo Alonso‐Moralejo, Laura Nuño, Gema Bonilla, Esther F. Vicente‐Rabaneda, Ignacio Grafiá, Sergio Prieto‐González, Javier Narváez, Ernesto Trallero‐Araguás, Albert Selva-O’Callaghan, Norberto Ortego‐Centeno, Naír Pérez-Gómez, Antonio Mera, Julia Martínez‐Barrio, C. Moriano, Elvira Díez, Jaime Calvo‐Alén, Alejandro Balsa, M. Ussetti, Rosalía Laporta, Cristina Berastegui, Amparó Solé, Oreste Gualillo, Lorenzo Cavagna, José M. Cifrián, Elisabetta Renzoni, Santos Castañeda, Raquel López‐Mejías, Miguel Á. González‐Gay
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.