GWAS: SNPs Associated with ESCC Risk

Sample size

  • 2,022 ESCC cases and 2,039 controls
  • Genotyping platform

  • SNPs were typed with Affymetrix GeneChip Human Mapping 6.0 set
  • Quality control criteria

  • Minor allele frequency (MAF) > 0.01
  • Hardy-Weinberg equilibrium with P > 1.0 × 10−6
  • Statistical methods

  • Imputed by MACH software based on the 1000 Genomes Project Phase 3 ASN (Asian) panel
  • An additive model in a logistic regression framework with age, sex, smoking and drinking as covariates
  • SNPs in the final analysis after imputation and QC

  • 8,252,518 SNPs on autosomes


  • Manhattan plot of the genome-wide
    P values of risk associations

    The -log10 P values (y axis) of SNPs (P < 0.01) are shown according to their chromosomal positions (x axis), and the horizontal blue line represents the genome-wide significance threshold at P < 1.0 × 10-5.

    Significant SNPs associated with risk of ESCC included in CCGD-ESCC

  • 16,544 SNPs with P < 1.0 × 10-5


  •   Related Sources

    1. Wu C, et al. (2011). Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations. Nat Genet. 43(7):679-84. PMID: 21642993.
    2. Wu C, et al. (2012). Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions. Nat Genet. 44(10):1090-7. PMID: 22960999.
    3. Wu C, et al. (2014). Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. Nat Genet. 46(9):1001-6. PMID: 25129146.