title: Genetic variants and risk of esophageal squamous cell carcinoma: a GWAS-based pathway analysis.
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.
authors.affiliation: Department of Radiation Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing 210019, China.
authors.forename: Xi
authors.initials: X
authors.lastname: Yang
authors.affiliation: Department of Radiation Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing 210019, China.
authors.forename: Hongcheng
authors.initials: H
authors.lastname: Zhu
authors.affiliation: Department of Radiation Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing 210019, China.
authors.forename: Qin
authors.initials: Q
authors.lastname: Qin
authors.affiliation: Department of Radiation Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing 210019, China.
authors.forename: Yuehua
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Department of Radiation Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing 210019, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Department of General Internal Medicine, The First Affiliated Hospital of Nanjing Medical University, Nanjing 210019, China.
authors.forename: Hongyan
authors.initials: H
authors.lastname: Cheng
authors.affiliation: Department of Radiation Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing 210019, China. Electronic address: sunxinchen2012@163.com.
authors.forename: Xinchen
authors.initials: X
authors.lastname: Sun
mesh_terms: D044466:Asian People / Q000235:genetics; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D004938:Esophageal Neoplasms / Q000235:genetics*; D000077277:Esophageal Squamous Cell Carcinoma; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D055106:Genome-Wide Association Study / Q000379:methods*; D006801:Humans; D015810:Linkage Disequilibrium; D053858:Metabolic Networks and Pathways; D020641:Polymorphism, Single Nucleotide
keywords: Esophageal squamous cell carcinoma; Genome-wide association study; Pathway analysis