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Influence of MUC5B gene on antisynthetase syndrome

Abstract: 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.

Otras publicaciones de la misma revista o congreso con autores/as de la Universidad de Cantabria

 Fuente: Scientific Reports 10, Article number: 1415 (2020)

Editorial: Nature Publishing Group

 Fecha de publicación: 29/01/2020

Nº de páginas: 6

Tipo de publicación: Artículo de Revista

 DOI: 10.1038/s41598-020-58400-0

ISSN: 2045-2322

Url de la publicación: https://doi.org/10.1038/s41598-020-58400-0

Autores/as

LÓPEZ-MEJÍAS, RAQUEL

REMUZGO-MARTÍNEZ, SARA

GENRE, FERNANDA

PULITO-CUETO, VERÓNICA

FERNÁNDEZ ROZAS, SONIA M.

DAVID ITURBE FERNANDEZ

MORA CUESTA, VÍCTOR M.

ORTEGO-CENTENO, NORBERTO

PÉREZ GÓMEZ, NAIR

MERA-VARELA, ANTONIO

MARTÍNEZ-BARRIO, JULIA

LÓPEZ-LONGO, FRANCISCO JAVIER

MIJARES, VERÓNICA

LERA-GÓMEZ, LETICIA

USETTI, MARÍA PIEDAD

LAPORTA, ROSALÍA