Article Per Year (5 Year)
p-Index From 2021 - 2026
0.659
P-Index
This Author published in this journals
All Journal Media Farmasi : Jurnal Ilmu Farmasi (Journal Of Pharmaceutical Science) Jurnal Kesehatan Reproduksi
Chong, Rockie
Unknown Affiliation
Chemistry Immunology & microbiology Materials Science & Nanotechnology Medicine & Pharmacology Public Health

Published : 3 Documents Claim Missing Document
Claim Missing Document
Check
Articles

Found 3 Documents
Search

 1 
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.
UNCOVERING PATHOGENIC MISSENSE VARIANTS IN ENDOMETRIOSIS USING A GENOME-WIDE ASSOCIATION STUDY Nurullita Santri, Ichtiarini; Adikusuma, Wirawan; Theda Philothra, Petrina; Fadhliati Maulida, Nurul; Chong, Rockie; Ates, Ilker; Vincent Abero Phiri, Yohane; Muhammad Irham, Lalu
JURNAL KESEHATAN REPRODUKSI Vol 16 No 2 (2025): JURNAL KESEHATAN REPRODUKSI VOLUME 16 NOMOR 2 TAHUN 2025
Publisher : IAKMI South Tangerang Branch

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.58185/jkr.v16i2.407

Abstract

Background: Endometriosis is a complex gynecological disorder with a strong genetic component. Although genome-wide association studies (GWAS) have identified numerous risk loci, the functional interpretation of protein-altering missense variants remains limited. Objective: This study identified pathogenic missense variants linked to endometriosis risk using publicly available GWAS data and explored implications for genetic risk detection, particularly in underrepresented populations such as Indonesia. Methods: Endometriosis-associated missense single nucleotide polymorphisms (SNPs) were identified from GWAS data, and a total of eight missense SNPs were analyzed. Functional effects were evaluated in silico using PolyPhen-2 and SIFT. Allele frequency distributions were assessed across global populations, and pathway enrichment analysis was conducted using the Reactome database. Results: Several missense variants were significantly associated with increased endometriosis risk (e.g., rs75801644, OR = 3.88; rs144824657, OR = 3.52), while rs2341097 showed a potential protective effect. Functional prediction prioritized variants in genes such as KCNG2 and BSG as potentially damaging. Population analyses revealed marked allele frequency differences, and enriched pathways were related to potassium channel activity, metabolism, extracellular matrix organization, and signal transduction. Conclusion: This study identifies missense variants contributing to endometriosis susceptibility and provides insight into biological pathways. Further experimental validation and clinical studies are warranted.
Co-Authors Abdi Wira Septama Afief, Arief Rahman Anisa Devi Kharisma Wibowo Ates, Ilker Fadhliati Maulida, Nurul 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 Nurullita Santri, Ichtiarini Pranata, Satria Purwanto, Barkah Djaka Puspitaningrum, Anisa Nova Satria, Rahmat Dani Siswanto, Lalu Muhammad Harmain Theda Philothra, Petrina Vincent Abero Phiri, Yohane Wirawan Adikusuma Woro Supadmi Zakaria, Zainul Amiruddin