Genetic Susceptibility to Antisynthetase Syndrome Associated With Single-Nucleotide Variants in the IL1B Gene That Lead Variation in IL-1β Serum Levels

• Published in: Frontiers in medicine 2020-11, Vol.7, p.547186
• Main Authors: Ponce-Gallegos, Marco Antonio, Ramos-Martínez, Espiridión, García-Carmona, Adriana, Mejía, Mayra, Nava-Quiroz, Karol J, Pérez-Rubio, Gloria, Ambrocio-Ortiz, Enrique, González-Pérez, Montserrat I, Buendía-Roldán, Ivette, Rojas-Serrano, Jorge, Falfán-Valencia, Ramcés
• Format: Article
• Language: English
• Subjects: anti-Jo1; antisynthetase syndrome; genetic association; IL1-beta; IL1B gene; Medicine; SNP
• ISSN: 2296-858X; 2296-858X
• DOI: 10.3389/fmed.2020.547186

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 ( ) 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 gene, the GG genotype and G allele of rs1143634 [odds ratio (OR) = 2.21 and OR = 2.60, respectively, < 0.05] are associated with an increased risk, as well as with the dominant and recessive models ( < 0.05). This finding is maintained after logistic regression analysis adjusting for potential confounding variables ( < 0.05). Subjects with the rs16944/AG heterozygous genotype had higher serum levels of IL-1β compared to homozygous ( < 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.