Abstract

The antisynthetase syndrome (ASSD) is an autoimmune disorder characterized by myositis, arthritis, mechanic's hands, fever, Raynaud phenomenon, and interstitial lung disease (ILD). We aimed to evaluate single-nucleotide polymorphisms in the interleukin 1B (IL1B) gene and their association between ILD with antisynthetase autoantibodies, as well as IL-1β serum levels. The most frequent antisynthetase autoantibody was anti-Jo1. The most frequent tomographic pattern was non-specific interstitial pneumonia, whereas in the anti-Jo1 subjects, it was organized pneumonia. Anti-Jo1 patients tend to have more significant arthritis, and Raynaud phenomenon have higher levels of creatinine phosphokinase. In the IL1B gene, the GG genotype and G allele of rs1143634 [odds ratio (OR) = 2.21 and OR = 2.60, respectively, p < 0.05] are associated with an increased risk, as well as with the dominant and recessive models (p < 0.05). This finding is maintained after logistic regression analysis adjusting for potential confounding variables (p < 0.05). Subjects with the rs16944/AG heterozygous genotype had higher serum levels of IL-1β compared to homozygous (p < 0.05). In conclusion, rs1143634 is associated with a higher risk of ASSD. Also, the GA genotype is associated with higher levels of IL-1β in ASSD patients.

Highlights

  • The antisynthetase syndrome (ASSD) is an autoimmune disorder characterized by diverse clinical manifestations, including myositis, arthritis, mechanic’s hands, fever, Raynaud phenomenon, and interstitial lung disease (ILD), as well as the presence of aminoacyl-transfer RNA synthase (ARS) autoantibodies [1, 2]

  • The clinical characteristics of the ASSD group showed that the median age was 57 years, and 70.6% were female

  • Clinical manifestations can differ according to the different ARS autoantibodies

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Summary

Introduction

The antisynthetase syndrome (ASSD) is an autoimmune disorder characterized by diverse clinical manifestations, including myositis, arthritis, mechanic’s hands, fever, Raynaud phenomenon, and interstitial lung disease (ILD), as well as the presence of aminoacyl-transfer RNA synthase (ARS) autoantibodies [1, 2]. The ASSD was firstly associated with idiopathic inflammatory myopathies (IIMs); previously, it has been described that many of these patients. IL1B SNPs in ASSD may have only slight myositis clinical manifestations and not fulfill with the Bohan and Peter criteria for an inflammatory myopathy [3,4,5]. Differences have been described according to the different ARS autoantibodies. PL7 and PL12 are associated with early and severe ILD [7, 8]. Anti-Jo1 is associated with more muscle involvement and better prognosis [9, 10]

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