1. Research Question & Objectives: Bladder cancer is a common malignancy with significantly better outcomes when detected at an early stage. Early detection and diagnosis are critical for better patient outcomes and more effective treatment. We will use the UK Biobank’s genomics data to integrate other omics data to find the biomarker for early detection of bladder cancer.
2. Specific Aims:
a.Biomarker Discovery through Multi-Omics Integration
Integrate multi-omics data, including genomics and transcriptomics, to discover non-invasive biomarkers.
b.Biological Pathway Analysis
Perform biological pathway analysis using databases like KEGG and Gene Ontology (GO) to understand the underlying mechanisms of tumor development.
c.Tissue Specificity Analysis
Ensure biomarkers accurately reflect changes in bladder tissue, reducing the risk of misdiagnosis from unrelated conditions and enhancing clinical interpretation.
3. Scientific Rationale:
Non-invasive methods are safer, easier, and more acceptable than invasive ones. Biomarkers like circulating tumor DNA in plasma can indicate early disease changes. This study aims to identify predictive biomarkers to develop non-invasive tools for early detection. Bladder cancer patients were selected as the study group, and controls were matched by propensity score matching (PSM) (ratio 1:1-1:4). No significant differences in age or BMI were found between groups, as verified by t-tests and chi-square tests.
SNPs will be identified through allele frequency analysis and integrated with differentially expressed genes from RNA-seq data of early-stage bladder cancer patients to elucidate the biological significance of overlapping genes. The regulatory mechanisms and functions of these markers will be further studied, and the findings will be validated experimentally. This research aims to enable earlier diagnosis, better screening, and improved outcomes for bladder cancer patients.
