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All Journal Media Farmasi : Jurnal Ilmu Farmasi (Journal Of Pharmaceutical Science)
Chong, Rockie
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Chemistry Immunology & microbiology Materials Science & Nanotechnology Medicine & Pharmacology

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Mapping rheumatoid arthritis susceptibility through integrative bioinformatics and genomics Medi Sushanti, Nining; Adikusuma, Wirawan; Afief, Arief Rahman; La’ah, Anita Silas; Firdayani, Firdayani; Chong, Rockie; Zakaria, Zainul Amiruddin; Purwanto, Barkah Djaka; Satria, Rahmat Dani; Khair, Riat; Septama, Abdi Wira; Irham, Lalu Muhammad
Media Farmasi: Jurnal Ilmu Farmasi Vol. 20 No. 1: March 2023
Publisher : Universitas Ahmad Dahlan

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.12928/mf.v20i1.24912

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.
Identification of Biomarker for Stunting Through Prioritization of Gene-Assosiated Variants Wibowo, Anisa Devi Kharisma; Puspitaningrum, Anisa Nova; Ma’ruf, Muhammad; Irham, Lalu Muhammad; Supadmi, Woro; Kartikasari, Ayu Lifia Nur; Adikusuma, Wirawan; Chong, Rockie; Firman, Firman; Nugraha, Media Fitri Isma Isma; Siswanto, Lalu Muhammad Harmain; Khairi, Sabiah; Pranata, Satria
Media Farmasi: Jurnal Ilmu Farmasi Vol. 21 No. 1: March 2024
Publisher : Universitas Ahmad Dahlan

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.12928/mf.v21i1.28297

Abstract

Stunting is a condition of impaired growth and development in children due to chronic nutritional disorders or infections. The risk factor for stunting is dominated by disease during 1000 days of life. The incidence of stunting in Indonesia is 21.6%, according to the Indonesian Nutrition Status Survey (SSGI) results. This study aimed to identify stunting biomarkers based on the priority scoring of gene variants. Identification of stunting risk genes used the Genome-Wide Association Studies (GWAS) approach and Haploreg v4.1. We found 33 genes that identifies as stunting risk gene. And then, we prioritize based on two functional annotation categories: missense-nonsense and cis-expression quantitative trait loci (cis-eQTL). Our analysis found 4 genes as biological stunting risk genes: MTRR, TTF1, CASP1, and CARD17. This research demonstrates the integration of genomic variants and bioinformatics approaches to reveal biological insights for stunting.
Co-Authors Abdi Wira Septama Afief, Arief Rahman Anisa Devi Kharisma Wibowo Firdayani, Firdayani Firman Firman Kartikasari, Ayu Lifia Nur Khair, Riat Khairi, Sabiah Lalu Muhammad Irham La’ah, Anita Silas Ma’ruf, Muhammad Medi Sushanti, Nining Nugraha, Media Fitri Isma Isma Pranata, Satria Purwanto, Barkah Djaka Puspitaningrum, Anisa Nova Satria, Rahmat Dani Siswanto, Lalu Muhammad Harmain Wirawan Adikusuma Woro Supadmi Zakaria, Zainul Amiruddin