Frontiers in Medicine | |
Genetic Susceptibility to Antisynthetase Syndrome Associated With Single-Nucleotide Variants in the IL1B Gene That Lead Variation in IL-1β Serum Levels | |
article | |
Marco Antonio Ponce-Gallegos1  Jorge Rojas-Serrano2  Ramcés Falfán-Valencia1  Espiridión Ramos-Martínez3  Adriana García-Carmona1  Mayra Mejía2  Karol J. Nava-Quiroz1  Gloria Pérez-Rubio1  Enrique Ambrocio-Ortiz1  Montserrat I. González-Pérez2  Ivette Buendía-Roldán4  | |
[1] HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas;Interstitial Lung Disease and Rheumatology Unit, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas;Universidad Nacional Autónoma de México;Translational Research Laboratory on Aging and Pulmonary Fibrosis, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas | |
关键词: antisynthetase syndrome; IL1B gene; IL1-beta; SNP; anti-Jo1; genetic association; | |
DOI : 10.3389/fmed.2020.547186 | |
学科分类:社会科学、人文和艺术(综合) | |
来源: Frontiers | |
【 摘 要 】
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.
【 授权许可】
CC BY
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