Transcriptome profiling and analysis of patients with esophageal squamous cell carcinoma from Kazakhstan
Sharip A. Rakhimova S. Molkenov A. Ashenova A. Kozhamkulov U. Akhmetollayev I. Zinovyev A. Zhukov Y. Omarov M. Tuleutaev M. Rakhmetova V. Terwilliger J.D. Lee J.H. Zhumadilov Z. Akilzhanova A. Kairov U.
March 2024Frontiers Media SA
Frontiers in Genetics
2024#15
Esophageal squamous cell carcinoma (ESCC) is the predominant subtype of esophageal cancer in Central Asia, often diagnosed at advanced stages. Understanding population-specific patterns of ESCC is crucial for tailored treatments. This study aimed to unravel ESCC’s genetic basis in Kazakhstani patients and identify potential biomarkers for early diagnosis and targeted therapies. ESCC patients from Kazakhstan were studied. We analyzed histological subtypes and conducted in-depth transcriptome sequencing. Differential gene expression analysis was performed, and significantly dysregulated pathways were identified using KEGG pathway analysis (p-value < 0.05). Protein-protein interaction networks were constructed to elucidate key modules and their functions. Among Kazakhstani patients, ESCC with moderate dysplasia was the most prevalent subtype. We identified 42 significantly upregulated and two significantly downregulated KEGG pathways, highlighting molecular mechanisms driving ESCC pathogenesis. Immune-related pathways, such as viral protein interaction with cytokines, rheumatoid arthritis, and oxidative phosphorylation, were elevated, suggesting immune system involvement. Conversely, downregulated pathways were associated with extracellular matrix degradation, crucial in cancer invasion and metastasis. Protein-protein interaction network analysis revealed four distinct modules with specific functions, implicating pathways in esophageal cancer development. High-throughput transcriptome sequencing elucidated critical molecular pathways underlying esophageal carcinogenesis in Kazakhstani patients. Insights into dysregulated pathways offer potential for early diagnosis and precision treatment strategies for ESCC. Understanding population-specific patterns is essential for personalized approaches to ESCC management. Copyright
analysis of differentially expressed genes , bioinformatics , esophageal squamous cell carcinoma , Kazakhstan , next-generation sequencing , RNA-seq , transcriptomics
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Center for Life Sciences, National Laboratory Astana, Nazarbayev University, Astana, Kazakhstan
National Center for Biotechnology, Astana, Kazakhstan
Institut Curie, PSL Research University, Paris, France
Multidisciplinary Medical Center, Astana, Kazakhstan
Department of Internal Diseases, Astana Medical University, Astana, Kazakhstan
Sergiеvsky Center, Columbia University, New York, NY, United States
Division of Medical Genetics, New York State Psychiatric Institute, New York, NY, United States
Department of Psychiatry and Department of Genetics and Development, Columbia University, New York, NY, United States
Departments of Epidemiology and Neurology, Columbia University, New York, NY, United States
School of Medicine, Nazarbayev University, Astana, Kazakhstan
Center for Life Sciences
National Center for Biotechnology
Institut Curie
Multidisciplinary Medical Center
Department of Internal Diseases
Sergiеvsky Center
Division of Medical Genetics
Department of Psychiatry and Department of Genetics and Development
Departments of Epidemiology and Neurology
School of Medicine
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