AUTHOR=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 

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

JOURNAL=Frontiers in Medicine

VOLUME=Volume 7 - 2020

YEAR=2020

URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2020.547186

DOI=10.3389/fmed.2020.547186

ISSN=2296-858X

ABSTRACT=The antisynthetase syndrome (ASSD) is an autoimmune disorder characterized by myositis, arthritis, mechanic’s hands, fever, Raynaud´s phenomenon, and interstitial lung disease. We aimed to evaluate SNPs in the 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 NSIP, while in the anti-Jo1 subjects, it was OP. Anti-Jo1 patients tend to have more significant arthritis, Raynaud’s phenomenon and have higher levels of CPK. In the IL1B gene, the GG genotype and G allele of rs1143634 (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 by potential confounding variables (p<0.05). Subjects with the rs16944/AG heterozygous genotype had higher serum levels of IL-1 compared to homozygous (p<0.05). In conclusion, rs1143634 is associated with a higher risk of ASSD. Also, and the GA genotype is associated with higher levels of IL-1β in ASSD patients.