Polygenic Score (PGS) ID: PGS005160

Predicted Trait
Reported Trait Esophageal cancer
Mapped Trait(s) esophageal carcinoma (EFO_0002916)
Released in PGS Catalog: March 17, 2025
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Score Details

Score Construction
PGS Name PRS-ESC
Development Method
Name Known susceptibility loci (genome-wide significant SNPs)
Parameters LD r2 ＞ 0.2 ; SNP threshold ＜ 5×10^-8
Variants
Original Genome Build GRCh37
Number of Variants 11
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000711
Citation (link to publication) Zhu M et al. PLoS Med (2025)
Ancestry Distribution
Source of Variant
Associations (GWAS)
East Asian: 100%
11,124 individuals (100%)
PGS Evaluation
East Asian: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST002568
Europe PMC: 25129146
 11,124 individuals East Asian NR

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM) 		PGS Sample Set ID
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM022397 PSS011937|
East Asian Ancestry|
100,219 individuals
 PGP000711 |
Zhu M et al. PLoS Med (2025)
 Reported Trait: Esophageal Cancer HR: 1.26 [1.16, 1.38]
β: 0.246		 C-index: 0.559 — Age,Sex (if applicable),Region,Top 10 genetic ancestry principal components The HR and C-index values were derived from Cox proportional hazards regression models.

Evaluated Samples

PGS Sample Set ID
(PSS) 		Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS011937 ICD-10: C15 Median = 11.33 years
Range = [10.18, 12.26] years
[
  • 499 cases
  • , 99,720 controls
]
,
42.8 % Male samples
 Mean = 53.69 years
Sd = 11.01 years		 East Asian
(Chinese)		 — CKB —