Authors
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
Published in
Journal, genetic engineering & biotechnology. Volume 24. Issue 3. Pages 100713. Epub May 31, 2026.
Abstract
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.
PMID:
42749394
Bibliographic data and abstract were imported from PubMed on 17 Sep 2026.
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