OP0108 NEW INSIGHTS IN THE GENOMIC “GRAMMAR” OF RHEUMATOID ARTHRITIS

Background Rheumatoid arthritis (RA) is a complex disease, caused by combination of genetic, epigenetic and environmental factors common to other related autoimmune diseases including Multiple Sclerosis (MS) Systemic Lupus Erythematosus (SLE) [1]. Using state the art Bioinformatics tools we are able formulate an ensemble associated components (genomic grammar) for each disease distinguish important differences aspects in specific group such as ensembles [2]. Objectives To create, collect evaluate most credible unique gene variants, variants single nucleotide polymorphisms (SNPs) causing basis immune (the genomic grammar disease), which could potentially assist process RA prevention, diagnosis treatment [3]. Methods publications from PubMed have been analyzed using data mining semantic techniques towards extracting candidate causative SNPs. The extracted knowledge has filtered, evaluated, annotated, classified structured database also includes GWAS information regarding Additional clinical, genomic, structural, functional biological was databases dbSNP, LitVar, ClinVar OMIM cross-correlated with available SNP databases, Demetra application, Epione application Panacea [3, 4]. Results A holistic genetic map studied more than 2000 SNPs estimated sub-clusters crucial nodes identified across RA, SLE MS diseases. Based on these results, three share 10% background (Figure 1 Table 1) [5]. optimal contains 1682 SNPs, 73% responding non-coding regions 27% coding 1.300 genes, pseudogenes, primers promoters. shares 464 113 MS. 1. Common Related Genes based targets disease. A/A Gene / Region ADAM33 2. LOC285626 3. ADIPOQ 4. MIR3142HG 5. CD40 6. MIR499A 7. CIITA 8. MTHFR 9. CTLA4 10. MT-ND5 11. FCRL3 12. NCF1 13. HLA-DPB1 14. NLRP1 15. HLA-DRA 16. NOS3 17. HLA-G 18. NR3C1 19. IL17A 20. PADI4 21. IL1RN 22. PDCD1 23. IL2 24. PON1 25. IL23R 26. STAT4 27. IL6 28. TGFB1 29. IL7R 30. TLR9 31. IRAK1 32. TNF 33. VDR 34. TNFRSF1A 35. IRF5 36. TYK2 37. KIF5A 38. UCP2 39. LEP Figure Three class Venn diagram between SLE. Conclusion identification will help understanding nature Specific via determined act biomarkers that aid forming right [6]. References [1]Acosta-Herrera et al, J Clin Med 2019;8:826 [2]Chatzikyriakidou Semin Arthritis Rheum 2013;43:29 [3]Papageorgiou Int Mol 2021;47:115 [4]Papageorgiou 2022;49:8 [5]Wang, Y Ann Dis 2021Epub ahead print:doi:10.1136/annrheumdis-2021-220066 [6]Kurko Rev Allergy Immunol 2013;45:170 Disclosure Interests None declared