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2020-01-29

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cc by (c) López Mejías et al., 2020
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/173235

Influence of MUC5B gene on antisynthetase syndrome

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https://doi.org/10.1038/s41598-020-58400-0

Resum

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.

Matèries

Malalties autoimmunitàries, Fibrosi pulmonar

Matèries (anglès)

Autoimmune diseases, Pulmonary fibrosis

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Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

Citació

LÓPEZ MEJÍAS, Raquel, REMUZGO MARTÍNEZ, Sara, GENRE, Fernanda, PULITO CUETO, Verónica, FERNÁNDEZ ROZAS, Sonia m., LLORCA, Javier, ITURBE FERNANDEZ, David, MORA CUESTA, Víctor m., ORTEGO CENTENO, Norberto, PÉREZ GÓMEZ, Norberto, MERA VARELA, Antonio, MARTÍNEZ BARRIO, Julia, LÓPEZ LONGO, Francisco j., MIJARES, Verónica, LERA GÓMEZ, Leticia, USSETTI, María piedad, LAPORTA, Rosalía, PÉREZ, Virginia, PABLO GAFAS, Alicia de, ALFRANCA GONZÁLEZ, María aránzazu, CALVO ALÉN, Jaime, ROMERO BUENO, Fredeswinda, SÁNCHEZ PERNAUTE, Olga, NUNO, Laura, BONILLA, Gema, BALSA, Alejandro, HERNÁNDEZ GONZÁLEZ, Fernanda, GRAFIA, Ignacio, PRIETO GONZÁLEZ, Sergio, NARVÁEZ GARCÍA, Francisco javier, TRALLERO ARAGUAS, Ernesto, SELVA O'CALLAGHAN, Albert, GUALILLO, Oreste, CASTAÑEDA, Santos, CAVAGNA, Lorenzo, CIFRIAN, José m., GONZÁLEZ GAY, Miguel a.. Influence of MUC5B gene on antisynthetase syndrome. _Scientific Reports_. 2020. Vol. 10. [consulta: 23 de gener de 2026]. [Disponible a: https://hdl.handle.net/2445/173235]

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