Muhammad Ma'ruf, Lalu Muhammad Irham, Wirawan Adikusuma, Maulida Mazaya, Alfian Mubaraq, Didi Nurhadi Illian, Arini Sabilah Al Mustaqimah, Linda Chiuman, Hayssam M. Ali, Shofiyah Sabilah Al Mustaniroh, Mohammad Basyuni
Colorectal cancer (CRC) is the third most prevalent cancer globally, accounting for 9.6% of newly diagnosed cases and 9.3% of cancer-related deaths. It develops from the uncontrolled proliferation of glandular cells in the colon and rectum and is categorized into three primary types: sporadic, hereditary, and colitis-associated. While genetic susceptibility is a key factor in CRC pathogenesis, identifying high-impact pathogenic variants remains a significant challenge. This study integrates bioinformatics and population genetics approaches to identify CRC-associated single-nucleotide polymorphisms (SNPs) with potential clinical significance. CRC-associated SNPs were extracted from the Genome-Wide Association Studies (GWAS) Catalog, functionally annotated via HaploReg, and validated via Ensembl. In addition, expression quantitative trait locus (eQTL) data from the GTEx database were used to assess the effects of these variants on gene expression across human tissues. Our analysis identified three high-priority SNPs (rs9379084, rs3184504, and rs11557154) associated with the RREB1, ATXN2, SH2B3, and DCAF12 genes, which exhibited marked allele frequency differences among populations. These findings suggest potential biomarkers for CRC risk assessment and highlight the importance of genetic screening across diverse populations. © 2026 The Authors. Published by Elsevier Inc. on behalf of Academy of Scientific Research and Technology. This is an open access article under the CC BY-NC-ND license. http://creativecommons.org/licenses/by-nc-nd/4.0/
Sekolah Tinggi Ilmu Kesehatan ISFI Banjarmasin, Banjarmasin, 70123, Indonesia; Faculty of Pharmacy, Universitas Ahmad Dahlan, Yogyakarta, 55164, Indonesia; Research Center for Computing, Research Organization for Electronics and Informatics, National Research and Innovation Agency (BRIN), Cibinong, 16911, Indonesia; Department of Pharmacy, Universitas Muhammadiyah Mataram, Mataram, 83217, Indonesia; Center of Excellence for Mangrove, Universitas Sumatera Utara, Medan, 20155, Indonesia; Department of Pharmacy, Faculty of Mathematics and Natural Sciences, Universitas Syiah Kuala, Banda Aceh, 23111, Indonesia; Faculty of Public Health, Universitas Sumatera Utara, Medan, 20155, Indonesia; Department of Physiology, Faculty of Medicine, Dentistry, and Health Sciences, Universitas Prima Indonesia, Medan, 20118, Indonesia; Department of Botany and Microbiology, College of Science, King Saud University, Riyadh, 11451, Saudi Arabia; Department of Forestry, Faculty of Forestry, Universitas Sumatera Utara, Medan, 20155, Indonesia
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