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Influence of MUC5B gene on antisynthetase syndrome.

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.

SUBMITTER: Lopez-Mejias R

PROVIDER: S-EPMC6989632 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature

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Influence of MUC5B gene on antisynthetase syndrome.

López-Mejías Raquel R Remuzgo-Martínez Sara S Genre Fernanda F Pulito-Cueto Verónica V Rozas Sonia M Fernández SMF Llorca Javier J Fernández David Iturbe DI Cuesta Víctor M Mora VMM Ortego-Centeno Norberto N Gómez Nair Pérez NP Mera-Varela Antonio A Martínez-Barrio Julia J López-Longo Francisco Javier FJ Mijares Verónica V Lera-Gómez Leticia L Usetti María Piedad MP Laporta Rosalía R Pérez Virginia V Gafas Alicia De Pablo AP González María Aránzazu Alfranca MAA Calvo-Alén Jaime J Romero-Bueno Fredeswinda F Sanchez-Pernaute Olga O Nuno Laura L Bonilla Gema G Balsa Alejandro A Hernández-González Fernanda F Grafia Ignacio I Prieto-González Sergio S Narvaez Javier J Trallero-Araguas Ernesto E Selva-O'Callaghan Albert A Gualillo Oreste O Castañeda Santos S Cavagna Lorenzo L Cifrian José M JM González-Gay Miguel A MA

Scientific reports 20200129 1

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 1 ...[more]

PMID: 31996780

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Project description:ImportanceAntisynthetase syndrome, characterized by myositis, interstitial lung disease, skin rash, arthropathy, and Raynaud phenomenon, is a clinical entity based on the presence of aminoacyl transfer RNA synthetase (ARS) antibodies in patients' serum. However, antisynthetase syndrome is not included in the histological subsets of idiopathic inflammatory myopathies.ObjectiveTo elucidate the clinical features of myositis in patients with antisynthetase syndrome.Design, setting, and participantsIn this cohort study, muscle biopsy and blood samples were collected from 460 patients with idiopathic inflammatory myositis from various regional referral centers throughout Japan between October 2010 and December 2014. Data were analyzed in March 2016.ExposuresSix different anti-ARS antibodies were detected in serum by RNA immunoprecipitation. Line blot assay and protein immunoprecipitation were also performed. HLA-DRB1 alleles were genotyped.Main outcomes and measuresThe main outcomes were muscle manifestations and histological findings. Predisposing factors, extramuscular symptoms, and follow-up information were also studied.ResultsOf 460 patients with idiopathic inflammatory myopathies, 51 (11.1%) had anti-ARS antibodies. Of this subset, 31 (61%) were women, with a mean (SD) age at disease onset of 60.2 (16.1) years. Among 6 different anti-ARS antibodies, only 1-the anti-OJ antibody-was not detected by line blot assay but by RNA immunoprecipitation. There were no significant HLA-DRB1 alleles associated with anti-ARS antibodies. All 51 patients presented with muscle limb weakness; 14 (27%) had severe limb weakness, 17 (33%) had neck muscle weakness, 15 (29%) had dysphagia, and 15 (29%) had muscle atrophy. Although patients with anti-OJ antibodies showed severe muscle weakness, the clinical presentations of antisynthetase syndrome were relatively homogeneous. In histology, perifascicular necrosis, the characteristic finding of antisynthetase syndrome, was found in 24 patients (47%). Myositis with anti-ARS antibodies responded to the combination of immunosuppressive therapy with favorable outcomes. Interstitial lung disease, found in 41 patients (80%), was more closely associated with mortality than myositis.Conclusions and relevanceAlthough clinical presentations of antisynthetase syndrome were relatively homogeneous, anti-OJ antibodies were associated with severe muscle involvement. Antisynthetase syndrome is a clinical and histological subset among idiopathic inflammatory myopathies.

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Influence of MUC5B gene on antisynthetase syndrome.

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Influence of MUC5B gene on antisynthetase syndrome.

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