Influence of MUC5B gene on antisynthetase syndrome

Raquel López-Mejías, Sara Remuzgo-Martínez, Fernanda Genre, Verónica Pulito-Cueto, Sonia M.Fernández Rozas, Javier Llorca, David Iturbe Fernández, Víctor M.Mora Cuesta, Norberto Ortego-Centeno, Nair Pérez Gómez, Antonio Mera-Varela, Julia Martínez-Barrio, Francisco Javier López-Longo, Verónica Mijares, Leticia Lera-Gómez, María Piedad Usetti, Rosalía Laporta, Virginia Pérez, Alicia De Pablo Gafas, María Aránzazu Alfranca GonzálezJaime Calvo-Alén, Fredeswinda Romero-Bueno, Olga Sanchez-Pernaute, Laura Nuno, Gema Bonilla, Alejandro Balsa, Fernanda Hernández-González, Ignacio Grafia, Sergio Prieto-González, Javier Narvaez, Ernesto Trallero-Araguas, Albert Selva-O’Callaghan, Oreste Gualillo, Santos Castañeda, Lorenzo Cavagna, José M. Cifrian, Miguel A. González-Gay

Research output: Contribution to journalArticle

Abstract

MUC5B rs35705950 (G/T) is strongly associated with idiopathic pulmonary fibrosis (IPF) and also contributes to the risk of interstitial lung disease (ILD) in rheumatoid arthritis (RA-ILD) and chronic hypersensitivity pneumonitis (CHP). Due to this, we evaluated the implication of MUC5B rs35705950 in antisynthetase syndrome (ASSD), a pathology characterised by a high ILD incidence. 160 patients with ASSD (142 with ILD associated with ASSD [ASSD-ILD+]), 232 with ILD unrelated to ASSD (comprising 161 IPF, 27 RA-ILD and 44 CHP) and 534 healthy controls were genotyped. MUC5B rs35705950 frequency did not significantly differ between ASSD-ILD+ patients and healthy controls nor when ASSD patients were stratified according to the presence/absence of anti Jo-1 antibodies or ILD. No significant differences in MUC5B rs35705950 were also observed in ASSD-ILD+ patients with a usual interstitial pneumonia (UIP) pattern when compared to those with a non-UIP pattern. However, a statistically significant decrease of MUC5B rs35705950 GT, TT and T frequencies in ASSD-ILD+ patients compared to patients with ILD unrelated to ASSD was observed. In summary, our study does not support a role of MUC5B rs35705950 in ASSD. It also indicates that there are genetic differences between ILD associated with and that unrelated to ASSD.

Original languageEnglish
Article number1415
JournalScientific Reports
Volume10
Issue number1
DOIs
Publication statusPublished - Dec 1 2020

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    López-Mejías, R., Remuzgo-Martínez, S., Genre, F., Pulito-Cueto, V., Rozas, S. M. F., Llorca, J., Fernández, D. I., Cuesta, V. M. M., Ortego-Centeno, N., Gómez, N. P., Mera-Varela, A., Martínez-Barrio, J., López-Longo, F. J., Mijares, V., Lera-Gómez, L., Usetti, M. P., Laporta, R., Pérez, V., Gafas, A. D. P., ... González-Gay, M. A. (2020). Influence of MUC5B gene on antisynthetase syndrome. Scientific Reports, 10(1), [1415]. https://doi.org/10.1038/s41598-020-58400-0