Media Farmasi : Jurnal Ilmu Farmasi (Journal Of Pharmaceutical Science)
Vol. 20 No. 1: March 2023

Mapping rheumatoid arthritis susceptibility through integrative bioinformatics and genomics

Medi Sushanti, Nining (Unknown)
Adikusuma, Wirawan (Unknown)
Afief, Arief Rahman (Unknown)
La’ah, Anita Silas (Unknown)
Firdayani, Firdayani (Unknown)
Chong, Rockie (Unknown)
Zakaria, Zainul Amiruddin (Unknown)
Purwanto, Barkah Djaka (Unknown)
Satria, Rahmat Dani (Unknown)
Khair, Riat (Unknown)
Septama, Abdi Wira (Unknown)
Irham, Lalu Muhammad (Unknown)



Article Info

Publish Date
16 Mar 2023

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.

Copyrights © 2023






Journal Info

Abbrev

Media-Farmasi

Publisher

Subject

Chemistry Immunology & microbiology Materials Science & Nanotechnology Medicine & Pharmacology

Description

Media Farmasi is a scientific journal published by the University of Ahmad Dahlan worked closely with Ikatan Apoteker Indonesia (IAI). Media Farmasi published two times a year, namely in March and September since 2002 with ISSN 1412-7946 and e-ISSN 2503-5223. The article published in the Journal ...