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Updated: Apr 20, 2026

Development of Compendium for Esophageal Squamous Cell Carcinoma
Published on: April 12, 2024
Genetic variants and risk of esophageal squamous cell carcinoma: a GWAS-based pathway analysis
Xi Yang1, Hongcheng Zhu1, Qin Qin1
1Department of Radiation Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing 210019, China.
Abstract:
This study was designed to identify candidate single-nucleotide polymorphisms (SNPs) that may affect the susceptibility to esophageal squamous cell carcinoma (ESCC) and elucidate their potential mechanisms to generate SNP-to-gene-to-pathway hypotheses. A genome-wide association study (GWAS) dataset for ESCC, which included 453,852 SNPs from 1898 ESCC patients and 2100 control subjects of Chinese population, was reviewed. The identify candidate causal SNPs and pathways (ICSNPathway) analysis identified seven candidate SNPs, five genes, and seven pathways, which together revealed seven hypothetical biological mechanisms. The three strongest hypothetical biological mechanisms were as follows: rs4135113→TDG→BASE EXCISION REPAIR; rs1800450→MBL2→MONOSACCHARIDE BINDING; and rs3769823→CASP8→d4gdiPathway. The GWAS dataset was evaluated using the ICSNPathway, which showed seven candidate SNPs, five genes, and seven pathways that may contribute to the susceptibility of patients to ESCC.
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