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

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. Consequent...

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Autores principales: Sara Remuzgo-Martínez, Belén Atienza-Mateo, J. Gonzalo Ocejo-Vinyals, Fernanda Genre, Verónica Pulito-Cueto, Víctor M. Mora-Cuesta, David Iturbe-Fernández, Leticia Lera-Gómez, Raquel Pérez-Fernández, Diana Prieto-Peña, Juan Irure, Fredeswinda Romero-Bueno, Olga Sanchez-Pernaute, Rodrigo Alonso-Moralejo, Laura Nuño, Gema Bonilla, Esther F. Vicente-Rabaneda, Ignacio Grafia, Sergio Prieto-González, Javier Narvaez, Ernesto Trallero-Araguas, Albert Selva-O’Callaghan, Spanish Biomarkers of Antisynthetase Syndrome Consortium, Spanish Biomarkers of Interstitial Lung Disease Consortium, Oreste Gualillo, Lorenzo Cavagna, José M. Cifrián, Elisabetta A. Renzoni, Santos Castañeda, Raquel López-Mejías, Miguel A. González-Gay
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Medicine
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Science
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Acceso en línea:https://doaj.org/article/cd5a8124167049f5973b2650b03b77f6
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Sumario: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.

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