Mapping Rheumatoid Arthritis Susceptibility through Integrative Bioinformatics and Genomics

Sushanti, Nining Medi and Adikusuma, Wirawan and Afief, Arief Rahman and La’ah, Anita Silas and Firdayani, Firdayani and Chong, Rockie and Zakaria, Zainul Amiruddin and Purwanto, Barkah Djaka and Satria, Rahmat Dani and Khair, Riat El and Septama, Abdi Wira and Irham, Lalu Muhammad (2023) Mapping Rheumatoid Arthritis Susceptibility through Integrative Bioinformatics and Genomics. Media Farmasi: Jurnal Ilmu Farmasi (Journal Of Pharmaceutical Science), 20 (1). pp. 15-23. ISSN 1412-7946 (print); 2503-5223 (online)

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Rheumatoid arthritis (RA) is an autoimmune disease that influences several organs and tissues, especially the synovial joints, and is associated with multiple genetic and environmental factors. Numerous databases provide information on the relationship between a specific gene and the disease pathogenesis. However, it is important to further prioritize biological risk genes for downstream development and validation. This study aims to map RA-association genetic variation using genome-wide association study (GWAS) databases and prioritize influential genes in RA pathogenesis based on functional annotations. These functional annotations include missense/nonsense mutations, cis-expression quantitative trait locus (cis-eQTL), overlap knockout mouse phenotype (KMP), protein-protein interaction (PPI), molecular pathway analysis (MPA), and primary immunodeficiency (PID). 119 genetic variants mapped had a potential high risk for RA based on functional scoring. The top eight risk genes of RA are TYK2 and IFNGR2, followed by TNFRSF1A, IL12RB1 and CD40, C5, NCF2, and IL6R. These candidate genes are potential biomarkers for RA that can aid drug discovery and disease diagnosis.

Item Type: Artikel Umum
Subjects: R Medicine > RS Pharmacy and materia medica
Divisi / Prodi: Faculty of Pharmacy (Fakultas Farmasi) > S1-Pharmacy (S1-Farmasi)
Depositing User: mediafarmasi mediafarmasi
Date Deposited: 05 May 2023 01:25
Last Modified: 05 May 2023 01:25

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