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Updated: Mar 21, 2026

Using Human Differentially Expressed Gene Lists to Perform Downstream Pathway Enrichment Analysis and Target Prioritization
Published on: October 3, 2025
Colorectal cancer risk genes are functionally enriched in regulatory pathways
Xi Lu1, Mingming Cao2, Su Han3
1Department of Gastroenterology, The First Affiliated Hospital of Harbin Medical University, No. 23 You zheng Street Nan Gang District, Harbin, Heilongjiang 150001, China.
This study investigates genetic pathways for colorectal cancer (CRC) susceptibility variants. It identifies 44 Gene Ontology categories, including 17 regulatory pathways, offering insights into CRC
Area of Science:
- Genetics
- Oncology
- Bioinformatics
Background:
- Colorectal cancer (CRC) is a complex disease influenced by genetic and environmental factors.
- Genome-wide association studies (GWAS) have identified numerous CRC susceptibility variants, but their underlying genetic mechanisms remain largely unknown.
Purpose of the Study:
- To elucidate the genetic pathways associated with newly identified CRC susceptibility variants.
- To perform functional annotation and pathway analysis on a set of 85 CRC susceptibility variants.
Main Methods:
- Selected 85 CRC susceptibility variants (P < 1.00E-05) from the NHGRI GWAS catalog.
- Employed two SNP-to-gene mapping methods (nearest gene and ProxyGeneLD) to identify 128 unique CRC susceptibility genes.
- Conducted pathway analysis using the Gene Ontology (GO) database.
Main Results:
- Identified 44 significantly enriched GO categories.
- Discovered 17 regulatory pathways among the enriched GO categories.
- Provided a comprehensive list of 128 unique CRC susceptibility genes.
Conclusions:
- The identified pathways offer potential insights into the genetic mechanisms of CRC susceptibility.
- This functional annotation approach aids in understanding the biological basis of GWAS-identified variants.
- Results may guide future research into targeted CRC prevention and treatment strategies.
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