Global Journal of Science Frontier Research, G: Bio-Tech & Genetics, Volume 22 Issue 2

requires differential diagnosis between systemic JIA and systemic connective tissue diseases. Our data correspond to the results obtained during the study, involved a large group of patients from the UK, which has also found associations between psoriatic JIA and mutations in NLRP3, NOD2, MEFV and PSTPIP1 [Brembilla NC, 2018]. These data confirm the significance of extrapolation from monogenic syndromes to identify candidate genes for susceptibility to such a complex disease as JIA. Thus, mutations of four genes that are presented in our work encode proteins that are the main protective components of the innate immune system against intracellular pathogens, and increase the secretion of IL-1 β by activating caspase 1. Perhaps, polymorphisms in the studied genes may have an effect on the expression of IL-1 β , and subsequently affect the onset of JIA. In case if our findings are confirmed in other studies, we will be able to provide evidence for the advisability of treatment of specific variants of JIA with IL-1 β antagonists. However, the sample size in this cohort was too small for adequate results verification, and further studies with a larger cohort of JIA patients are required to confirm them. V. C onclusion Nucleotide sequence changes in NOD2, NLRP3, MEFV and PSTPIP1 genes were detected in 25.8% of patients with JIA, whose clinical phenotypes are characterized by arthritis with recurrent episodes of inflammation, fever, rash, lackof RF, ACCPand who are more often HLA-B27 negative, are poorly treated by protocol therapy, which determines the possibility of the existence of juvenile arthritis with variation sininnate immunity genes. In 19.3% of children, variable changes in the nucleotide sequence in the NOD2 gene were detected. A significant difference in the frequency of NOD2 mutations in patients with JIA compared with the population indicates the importance of this genetic variation for the initiation of juvenile arthritis. Therefore, insomecases, juvenil earthritis may have a mixed clinical phenotype of auto immune-auto inflammatory overlap, which should be considered when choosing a personalized therapeutictactic. JIA is a relatively rare pediatric disease, in which few full-genome studies have been conducted, especially at the population level. Therefore, follow-up research in this regard is appropriate. R eferences R éférences R eferencias 1. Akpolat T, Özkaya O, Özen S. Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients. Gene. 2012 Jan 15; 492(1): 285-9. doi: 10.1016/ j.gene. 2011.10.012. Epub 2011 Oct 13. PMID: 22037353. 2. Angelotti F, Parma A, Cafaro G , et al . One year in review 2017: pathogenesis of rheumatoid arthritis. Clin Exp Rheumatol 2017; 35: 368–78. 3. 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Cazeneuve C, Sarkisian T, Pêcheux C, Dervichian M, Nédelec B, Reinert P, Ayvazyan A, Kouyoumdjian JC, Ajrapetyan H, Delpech M, Goossens M, Dodé C, Grateau G, Amselem S. MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. Am J Hum Genet. 1999 Jul;65(1):88- 97. doi: 10.1086/302459. PMID: 10364520; PMCID: PMC1378078. 10. ExAC database: https://gnomad.broadinstitute.org/ variant/16-50745926-C-T?dataset = gnomad_r2_1 1 Year 2022 9 © 2022 Global Journals Global Journal of Science Frontier Research Volume XXII Issue ersion I VII ( G ) Autoinflammation Candidate Genes in Juvenile Idiopathic Arthritis