RT Journal Article
T1 Influence of MUC5B gene on antisynthetase syndrome.
A1 López-Mejías, Raquel
A1 Remuzgo-Martínez, Sara
A1 Genre, Fernanda
A1 Pulito-Cueto, Verónica
A1 Rozas, Sonia M Fernández
A1 Llorca, Javier
A1 Fernández, David Iturbe
A1 Cuesta, Víctor M Mora
A1 Ortego-Centeno, Norberto
A1 Gómez, Nair Pérez
A1 Mera-Varela, Antonio
A1 Martínez-Barrio, Julia
A1 López-Longo, Francisco Javier
A1 Mijares, Verónica
A1 Lera-Gómez, Leticia
A1 Usetti, María Piedad
A1 Laporta, Rosalía
A1 Pérez, Virginia
A1 Gafas, Alicia De Pablo
A1 González, María Aránzazu Alfranca
A1 Calvo-Alén, Jaime
A1 Romero-Bueno, Fredeswinda
A1 Sanchez-Pernaute, Olga
A1 Nuno, Laura
A1 Bonilla, Gema
A1 Balsa, Alejandro
A1 Hernández-González, Fernanda
A1 Grafia, Ignacio
A1 Prieto-González, Sergio
A1 Narvaez, Javier
A1 Trallero-Araguas, Ernesto
A1 Selva-O'Callaghan, Albert
A1 Gualillo, Oreste
A1 Castañeda, Santos
A1 Cavagna, Lorenzo
A1 Cifrian, José M
A1 González-Gay, Miguel A
AB 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.
YR 2020
FD 2020-01-29
LK http://hdl.handle.net/10668/15020
UL http://hdl.handle.net/10668/15020
LA en
DS RISalud
RD Apr 7, 2025