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All Journal Jurnal Ilmu Farmasi dan Farmasi Klinik (Journal of Pharmaceutical Science and Clinical Pharmacy) Jurnal Ilmiah Jophus: Journal of Pharmacy UMUS
Ria Indah Pratami
ahmad dahlan university
Biochemistry, Genetics & Molecular Biology Chemistry Health Professions Immunology & microbiology Medicine & Pharmacology

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Decoding Genetic Risk: A Genome-Wide Association and Functional Analysis of Variants Linked to Liver Cancer Susceptibility: Analysis of Variants Linked to Liver Cancer Susceptibility danang prasetyaning amukti; Daru Estiningsih; Tetie Herlina; Latifa Amalia; Ifa Aris Suminingtyas; Moch. Saiful Bachri; Ria Indah Pratami; Imam Akbar; Muhammad Ma’ruf
Jurnal Ilmu Farmasi dan Farmasi Klinik Vol. 23 No. 1 (2026): Jurnal Ilmu Farmasi dan Farmasi Klinis (JIFFK)
Publisher : Universitas Wahid Hasyim Semarang

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.31942/jiffk.v23i1.14048

Abstract

Liver cancer is one of the leading causes of cancer death worldwide. Genetic factors play a role in determining a person's susceptibility to this disease. Genome-Wide Association Studies (GWAS) have identified several genetic variants associated with liver cancer, but their functional mechanisms still need to be further explored. Therefore, this study aims to identify genetic variants that contribute to liver cancer, evaluate their functional effects on proteins, analyze allele frequencies across global populations, and examine gene expression in various human tissues. This study used a bioinformatics approach to identify genetic variations associated with liver cancer from the GWAS Catalog. Five selected missense variants were analyzed using SIFT and PolyPhen-2 to assess their functional impact. Allele distributions in the global population were analyzed using 1000 Genomes Project data, and gene expression was analyzed using the GTEx Portal. The analysis identified 77 candidate genes with significant associations with liver cancer, based on p-values meeting the threshold (p < 5 × 10⁻⁸). Five genes in the Missense Variant category showed a strong association with liver cancer: IFNL3, SLC30A10, PNPLA3, OSMR, and CMTR2. In the analysis using SIFT and PolyPhen-2, the rs3096380 variant (CMTR2) was deleterious, and rs738409 (PNPLA3) and rs188273166 (SLC30A10) were deleterious and probably damaging, with the potential to disrupt protein function and contribute to the pathogenesis of liver cancer. Conclusion: Genetic variations rs738409 (PNPLA3) and rs188273166 (SLC30A10) are deleterious and probably damaging, potentially disrupting protein function and contributing to liver cancer pathogenesis.
KRT23 SEBAGAI BIOMARKER PROGNOSTIK PADA ADENOKARSINOMA REKTAL: ANALISIS BIOINFORMATIKA BERBASIS UALCAN: KRT23 sebagai Biomarker Prognostik pada Adenokarsinoma Rektal: Analisis Bioinformatika Berbasis UALCAN Danang Prasetyaning Amukti; Mitha Dwi Puspitasari; Ari Widhiarso; Bayu Bakti Angga Santoso; Ria Indah Pratami
Jurnal Ilmiah JOPHUS : Journal Of Pharmacy UMUS Vol. 7 No. 2 (2026): Februari
Publisher : Program Studi Farmasi, Universitas Muhadi Setiabudi

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.46772/jophus.v7i2.1836

Abstract

 Introduction: Colorectal cancer, including READ, is one of the leading causes of cancer death worldwide. Recent studies have shown the involvement of the KRT23 gene, a member of the type I keratin family, in various malignant processes, including tumor cell proliferation, migration, and invasion. Although KRT23 expression has been studied in several types of cancer, its role in rectal cancer remains poorly understood. This study aimed to evaluate the relationship between KRT23 expression and patients' clinical characteristics and their survival. Methods: KRT23 expression data in rectal cancer patients were obtained from the UALCAN platform, which included subgroups based on race, sex, and weight status. Analysis was performed to evaluate the relationship between KRT23 expression levels and patients' clinical characteristics and their effects on survival using Kaplan-Meier curves and log-rank statistical analysis. Results: KRT23 expression was significantly increased in rectal cancer tissues compared to normal tissues. Survival analysis showed that race significantly affected the relationship between KRT23 expression and patient prognosis (p < 0.0001), especially in the Caucasian and African-American racial groups. In contrast, there was no significant difference based on gender (p = 0.97) and weight status (p = 0.64). Conclusion: High KRT23 expression is associated with better prognosis in certain racial subgroups, making it a potential candidate prognostic biomarker for rectal cancer. However, further studies with larger sample sizes are needed to strengthen these findings and understand the underlying biological mechanisms.
Co-Authors Ari Widhiarso Bayu Bakti Angga Santoso Danang Prasetyaning Amukti Danang Prasetyaning Amukti Daru Estiningsih Ifa Aris Suminingtyas Imam Akbar Latifa Amalia Mitha Dwi Puspitasari Moch. Saiful Bachri Muhammad Ma’ruf Tetie Herlina