Mapping rheumatoid arthritis susceptibility through integrative bioinformatics and genomics

Nining Medi Sushanti and Wirawan Adikusuma and Arief Rahman Afief and Anita Silas La’ah and Firdayani and Rockie Chong and Zainul Amiruddin Zakaria and Barkah Djaka Purwanto and Rahmat Dani Satria and Riat El Khair and Abdi Wira Septama and Lalu Muhammad Irham (2023) Mapping rheumatoid arthritis susceptibility through integrative bioinformatics and genomics. Media Farmasi: Jurnal Ilmu Farmasi (Journal of Pharmaceutical Science), 20 (1). pp. 15-23.

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URL: http://journal.uad.ac.id/index.php/Media-Farmasi/a...

Abstract

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:	Article
Keyword:	Rheumatoid arthritis, Autoimmune, Genome, Bioinformatics, Genetic variation
Subjects:	R Medicine > R Medicine (General) > R5-920 Medicine (General) R Medicine > RC Internal medicine > RC31-1245 Internal medicine
Department:	FACULTY > Faculty of Medicine and Health Sciences
Depositing User:	SITI AZIZAH BINTI IDRIS -
Date Deposited:	24 Apr 2024 13:50
Last Modified:	24 Apr 2024 13:50
URI:	https://eprints.ums.edu.my/id/eprint/38578

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