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

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 as...

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Detalles Bibliográficos
Autores: 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-Nuño, Laura, Bonilla, Gema, Vicente Rabaneda, Esther F., Grafia, Ignacio, Prieto González, Sergio, Narváez, Javier, Trallero Araguas, Ernesto, Selva O'Callaghan, Albert, Ortego Centeno, Norberto, Pérez Gómez, Nair, Mera, Antonio, Martínez Barrio, Julia, Moriano, Clara, Díez, Elvira, Calvo Alén, Jaime, Balsa, Alejandro, Ussetti, María Piedad, Laporta, Rosalía, Berastegui, Cristina, Solé, Amparo, Gualillo, Oreste, Cavagna, Lorenzo, Cifrián, José M., Renzoni, Elisabetta A., Castañeda, Santos, López Mejías, Raquel, González Gay, Miguel A., Spanish Biomarkers Of Antisynthetase Syndrome Consortium, Spanish Biomarkers Of Interstitial Lung Disease Consortium
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/182728
Acceso en línea:https://hdl.handle.net/2445/182728
Access Level:acceso abierto
Palabra clave:Fibrosi pulmonar
Genètica mèdica
Pulmonary fibrosis
Medical genetics
Descripción
Sumario: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.

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