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All Journal JIMKI: Jurnal Ilmiah Mahasiswa Kedokteran Indonesia
Felicia Virginia Thios
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Health Professions Medicine & Pharmacology Public Health

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Genetic Determinants Of Helicobacter Pylori Virulence And Gastric Cancer Suspectibility: A Systematic Review Muhammad Hisyam Dzaki Alimuddin; Felicia Virginia Thios; Nabila Hana Zahirah Amri
JIMKI: Jurnal Ilmiah Mahasiswa Kedokteran Indonesia Book of Abstrack RCIMS 2025
Publisher : BAPIN-ISMKI (Badan Analisis Pengembangan Ilmiah Nasional - Ikatan Senat Mahasiswa Kedokteran Indonesia)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.53366/jimki.vi.974

Abstract

Introduction: Gastric cancer (GC) remains a leading cause of cancer mortality, with Helicobacter pylori (H. pylori) infection recognized as a major carcinogen. Virulence genes such as cagA, cagE, and vacA, along with specific cag pathogenicity island (PAI) polymorphisms, are implicated in gastric mucosal injury and malignant transformation. This systematic review aimed to identify H. pylori genotypes associated with increased GC risk. Methods: Following PRISMA 2020 guidelines, a systematic search was conducted in PubMed, ProQuest, and ScienceDirect. Eligible studies included case-control or cross-sectional designs assessing H. pylori virulence genotypes among GC and non-GC patients. Data were extracted and summarized descriptively based on odds ratios (ORs) and genotype distributions. Results and Discussion: From 4,359 screened records, five studies met inclusion criteria. The vacA c1 allele was linked to a higher GC risk (OR = 3.14, 95% CI 1.08–9.09), and cagA+cagE co-expression increased susceptibility (OR = 0.46, 95% CI 0.24–0.86). In Japan, East-Asian cagA with vacA s1m1 showed the strongest association (OR = 6.68, 95% CI 1.73–25.8), while multiple cagA EPIYA-C motifs in Brazilian isolates tripled GC risk (OR = 3.08, 95% CI 1.74–5.45). Latin American data identified cagA and cagC variants significantly enriched in GC isolates. These findings indicate that cagA and vacA synergistically drive epithelial disruption and inflammation, underpinning their oncogenic potential. Conclusion: CagA, vacA, and cagE genotypes represent key H. pylori virulence predictors of GC. Integrating genotypic profiling into clinical risk assessment could improve early detection and targeted prevention strategies.
Faktor Risiko Kanker Kolorektal Berdasarkan Penilaian Genetik: Tinjauan Literatur Studi Randomisasi Mendelian Thariq Muabbad; Noor Qurais; Adinda Fakhihah; Felicia Virginia Thios
JIMKI: Jurnal Ilmiah Mahasiswa Kedokteran Indonesia Vol 12 No 2 (2025): JIMKI: Jurnal Ilmiah Mahasiswa Kedokteran Indonesia Vol. 12.2 (2025)
Publisher : BAPIN-ISMKI (Badan Analisis Pengembangan Ilmiah Nasional - Ikatan Senat Mahasiswa Kedokteran Indonesia)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.53366/jimki.v12i2.905

Abstract

Pendahuluan: Kanker kolorektal (CRC) merupakan kanker ketiga tersering dan penyebab kematian akibat kanker kedua terbanyak di dunia. Meskipun berbagai faktor risiko telah diidentifikasi, hubungan kausal antara faktor-faktor tersebut dan kejadian CRC masih belum sepenuhnya dipahami karena adanya potensi bias, konfounding, dan kausalitas terbalik pada studi observasional. Analisis Mendelian Randomization (MR) menawarkan pendekatan alternatif dengan menggunakan variasi genetik sebagai instrumen untuk menguji hubungan kausal. Metode: Tinjauan literatur ini menggunakan metode narrative review terhadap studi MR yang dipublikasikan dalam 10 tahun terakhir dan mengevaluasi hubungan faktor risiko yang diprediksi secara genetik terhadap kejadian CRC. Literatur diperoleh melalui pencarian sistematis di basis data PubMed dan Cochrane, dengan seleksi berdasarkan kesesuaian topik, ketersediaan teks penuh, dan kualitas publikasi. Pembahasan: Sebanyak tujuh studi MR dianalisis. Hasil menunjukkan adanya hubungan kausal antara peningkatan kadar bilirubin total, percepatan epigenetic clock GrimAge, peningkatan kadar insulin-like growth factor-1 (IGF-1), konsumsi alkohol, paparan polutan udara (PM2.5), serta keberadaan mikrobiota usus tertentu (Porphyromonadaceae, Anaerotruncus, Intestinibacter) dengan peningkatan risiko CRC. Sebaliknya, Gammaproteobacteria dan Enterobacteriaceae menunjukkan efek protektif. Studi ini memiliki keterbatasan, termasuk pleiotropi horizontal dan keterbatasan populasi sampel yang sebagian besar berasal dari Eropa dan Asia Timur. Simpulan: Beberapa paparan yang diprediksi secara genetik terbukti memiliki hubungan kausal terhadap kejadian CRC. Diperlukan penelitian lanjutan berbasis populasi Asia Tenggara, khususnya Indonesia, untuk mengkonfirmasi temuan ini dalam konteks genetik dan lingkungan yang berbeda.
Co-Authors Adinda Fakhihah Muhammad Hisyam Dzaki Alimuddin Nabila Hana Zahirah Amri Noor Qurais Thariq Muabbad