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

Frontiers in Medicine

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】

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