%0 Journal Article
%A López-Mejías, Raquel
%A Remuzgo-Martínez, Sara
%A Genre, Fernanda
%A Pulito-Cueto, Verónica
%A Rozas, Sonia M Fernández
%A Llorca, Javier
%A Fernández, David Iturbe
%A Cuesta, Víctor M Mora
%A Ortego-Centeno, Norberto
%A Gómez, Nair Pérez
%A Mera-Varela, Antonio
%A Martínez-Barrio, Julia
%A López-Longo, Francisco Javier
%A Mijares, Verónica
%A Lera-Gómez, Leticia
%A Usetti, María Piedad
%A Laporta, Rosalía
%A Pérez, Virginia
%A Gafas, Alicia De Pablo
%A González, María Aránzazu Alfranca
%A Calvo-Alén, Jaime
%A Romero-Bueno, Fredeswinda
%A Sanchez-Pernaute, Olga
%A Nuno, Laura
%A Bonilla, Gema
%A Balsa, Alejandro
%A Hernández-González, Fernanda
%A Grafia, Ignacio
%A Prieto-González, Sergio
%A Narvaez, Javier
%A Trallero-Araguas, Ernesto
%A Selva-O'Callaghan, Albert
%A Gualillo, Oreste
%A Castañeda, Santos
%A Cavagna, Lorenzo
%A Cifrian, José M
%A González-Gay, Miguel A
%T Influence of MUC5B gene on antisynthetase syndrome.
%D 2020
%U http://hdl.handle.net/10668/15020
%X 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.
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