همایش ملی بیوانفورماتیک ایران

صفحه اصلی / 4th international edition and 13th Iranian Conference on Bioinformatics

Comprehensive Multi-Omics Analysis Reveals NPC2 and ITGAV Genes as Potential Prognostic Biomarkers in Gastrointestinal Cancers

نویسندگان :

Mohammad Reza Zabihi¹ Moein Piroozkhah² Pooya Jalali³ Zahra Salehi⁴

1- Laboratory of Complex Biological Systems and Bioinformatics (CBB), Department of Bioinformatics, Institute of Biochemistry and Biophysics (IBB), University of Tehran, Tehran, Iran 2- Basic and Molecular Epidemiology of Gastrointestinal Disorders Research Centre, Research Institute for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran 3- Basic and Molecular Epidemiology of Gastrointestinal Disorders Research Centre, Research Institute for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran 4- Hematology, Oncology and Stem Cell Transplantation Research Center, Research Institute for Oncology, Hematology and Cell Therapy, Tehran University of Medical Sciences, Tehran, Iran

کلمات کلیدی :

Gastrointestinal cancer،Prognostic factors،Bioinformatics،Multiomics،NPC2

چکیده :

Gastrointestinal cancers (GICs) remain among the leading causes of cancer-related morbidity and mortality worldwide. Despite advances in treatment, the prognosis for many GIC patients is still poor, largely due to the lack of reliable and accurate prognostic biomarkers. The identification of robust biomarkers capable of predicting individual clinical outcomes is a critical challenge in oncology. Although several potential biomarkers have been identified over the years, their predictive accuracy remains limited, and their therapeutic applications are still under exploration. In this context, identifying reliable prognostic biomarkers for GICs is crucial for improving patient outcomes and guiding more personalized treatment strategies. In this study, we conducted a systematic bioinformatics analysis to investigate two genes, NPC2 and ITGAV, as potential biomarkers for predicting prognosis in GICs. We analyzed data from multiple publicly available databases, including GEPIA2, cBioPortal, UALCAN, LinkedOmics, STRING, Enrichr, TISDB, TIMER2.0, hTFTarget, miRTarBase, circBank, and DGIdb, to assess gene expression, genetic alterations, and immune associations of NPC2 and ITGAV in various GIC types. Our results revealed that both NPC2 and ITGAV were significantly overexpressed in a wide range of GICs, including liver hepatocellular carcinoma (LIHC) and stomach adenocarcinoma (STAD), and were associated with poorer clinical outcomes. Notably, genetic alterations in these genes included amplification of NPC2 and deep deletion of ITGAV. Additionally, promoter hypermethylation was observed in NPC2 in pancreatic adenocarcinoma (PAAD) and in ITGAV in colon adenocarcinoma (COAD), suggesting epigenetic regulation. Furthermore, both genes showed strong associations with immune cell infiltration, particularly tumor-infiltrating lymphocytes and macrophages, and were correlated with several immune modulators, indicating their potential role in tumor immunity. Importantly, our analysis identified ten small-molecule drugs targeting ITGAV, providing potential therapeutic options. In conclusion, our findings suggest that NPC2 and ITGAV could serve as valuable prognostic biomarkers for GICs, offering insights into both clinical outcomes and immune-related pathways, and may ultimately guide the development of targeted therapies for GIC patients.