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Considering the recent increase in the number of colorectal cancer (CRC) cases in South Korea, we aimed to clarify the molecular characteristics of CRC unique to the Korean population. To gain insights into the complexities of CRC and promote the exchange of critical data, RNA-sequencing analysis was performed to reveal the molecular mechanisms that drive the development and progression of CRC; this analysis is critical for developing effective treatment strategies. We performed RNA-sequencing analysis of CRC and adjacent normal tissue samples from 214 Korean participants (comprising a total of 381 including 169 normal and 212 tumor samples) to investigate differential gene expression between the groups. We identified 19,575 genes expressed in CRC and normal tissues, with 3,830 differentially expressed genes (DEGs) between the groups. Functional annotation analysis revealed that the upregulated DEGs were significantly enriched in pathways related to the cell cycle, DNA replication, and IL-17, whereas the downregulated DEGs were enriched in metabolic pathways. We also analyzed the relationship between clinical information and subtypes using the Consensus Molecular Subtype (CMS) classification. Furthermore, we compared groups clustered within our dataset to CMS groups and performed additional analysis of the methylation data between DEGs and CMS groups to provide comprehensive biological insights from various perspectives. Our study provides valuable insights into the molecular mechanisms underlying CRC in Korean patients and serves as a platform for identifying potential target genes for this disease. The raw data and processed results have been deposited in a public repository for further analysis and exploration.
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http://dx.doi.org/10.1016/j.mocell.2024.100033 | DOI Listing |
Genome Biol
September 2025
Fisheries Research Institute, Sichuan Academy of Agricultural Sciences, Chengdu, 611730, China.
Background: Fish are the largest group of vertebrates. Studying the characteristics, functions, and interactions of different fish cells is important for understanding their roles in disease and evolution. However, most single cell RNA-seq studies in fish are restricted to a few specific organs, leaving a comprehensive cell landscape that aims to characterize the heterogeneity and connections among body-wide organs largely unexplored.
View Article and Find Full Text PDFBiochem Genet
September 2025
Department of Medical Biology, Cerrahpasa Faculty of Medicine, Istanbul University Cerrahpasa, Kocamustafapasa, 34098, Istanbul, Turkey.
Glioblastoma is the most aggressive and malignant tumor of the central nervous system. Current treatment options, including surgical excision, radiotherapy, and chemotherapy, have Limited efficacy, with a median survival rate of approximately 15 months. To develop novel therapeutics, it is crucial to understand the underlying molecular mechanisms driving glioblastoma.
View Article and Find Full Text PDFCancer Immunol Immunother
September 2025
Department of Medical Oncology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Whole blood (WB) transcriptomics offers a minimal-invasive method to assess patients' immune system. This study aimed to identify transcriptional patterns in WB associated with clinical outcomes in patients treated with immune checkpoint inhibitors (ICIs). We performed RNA-sequencing on pre-treatment WB samples from 145 patients with advanced cancer.
View Article and Find Full Text PDFNat Genet
September 2025
Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK.
Aberrant DNA methylation has been described in nearly all human cancers, yet its interplay with genomic alterations during tumor evolution is poorly understood. To explore this, we performed reduced representation bisulfite sequencing on 217 tumor and matched normal regions from 59 patients with non-small cell lung cancer from the TRACERx study to deconvolve tumor methylation. We developed two metrics for integrative evolutionary analysis with DNA and RNA sequencing data.
View Article and Find Full Text PDFNature
September 2025
Picower Institute for Learning and Memory, Massachusetts Institute of Technology, Cambridge, MA, USA.
Loss-of-function variants in the lipid transporter ABCA7 substantially increase the risk of Alzheimer's disease, yet how they impact cellular states to drive disease remains unclear. Here, using single-nucleus RNA-sequencing analysis of human brain samples, we identified widespread gene expression changes across multiple neural cell types associated with rare ABCA7 loss-of-function variants. Excitatory neurons, which expressed the highest levels of ABCA7, showed disrupted lipid metabolism, mitochondrial function, DNA repair and synaptic signalling pathways.
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