| Predicted Trait | |
| Reported Trait | Colorectal cancer |
| Mapped Trait(s) | colorectal cancer (MONDO_0005575) |
| Additional Trait Information | Genetic risk prediction for colorectal cancer |
| Score Construction | |
| PGS Name | PRS121 |
| Development Method | |
| Name | LD clumping and p-value thresholding with integration of previously reported PRS |
| Parameters | Combined PRS constructed by integrating 115 SNPs from a previous study (Ping J, Yang Y, Wen W, Kweon S, Matsuda K, Jia W, et al. Developing and validating polygenic risk scores for colorectal cancer risk prediction in East Asians. Intl Journal of Cancer. 2022;151:1726-36. https://doi.org/10.1002/ijc.34194) with 6 additional independent SNPs identified through East Asian GWAS meta-analysis; lead SNPs identified using LD clumping (r² < 0.01 within 1 Mb window) under p-value threshold 5×10⁻⁸; SNPs in LD with any PRS115-EAS SNP (r² ≥ 0.1) were excluded; effect sizes for the 115 PRS115-EAS SNPs taken from the published PRS115-EAS model. |
| Variants | |
| Original Genome Build | GRCh37 |
| Number of Variants | 121 |
| Effect Weight Type | log(OR) |
| PGS Source | |
| PGS Catalog Publication (PGP) ID | PGP000783 |
| Citation (link to publication) | Chen H et al. Genome Med (2026) |
| Study Identifiers | Sample Numbers | Sample Ancestry | Cohort(s) |
|---|---|---|---|
Europe PMC: 30859566 |
[
|
East Asian (Chinese) |
NR |
Europe PMC: 40854986 |
[
|
East Asian (Chinese) |
NR |
GWAS Catalog: GCST90013697 Europe PMC: 32514122 |
[
|
East Asian | BBJ |
| Study Identifiers | Sample Numbers | Sample Ancestry | Cohort(s) | Phenotype Definitions & Methods | Age of Study Participants | Participant Follow-up Time | Additional Ancestry Description | Additional Sample/Cohort Information |
|---|---|---|---|---|---|---|---|---|
| — | [
|
East Asian (Chinese and Japanese) |
NR | Meta-analysis of East Asian GWAS datasets to identify independent CRC-associated SNPs for PRS construction. | — | — | — | Total meta-analysis sample size used for SNP discovery and selection. |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PPM023446 | PSS012191| East Asian Ancestry| 2,821 individuals |
PGP000783 | Chen H et al. Genome Med (2026) |
Reported Trait: Advanced colorectal neoplasia | OR: 3.66 | AUROC: 0.629 | — | age; sex; top 10 genetic principal components; family history of colorectal cancer | OR corresponds to top 20% vs lowest quintile of PRS distribution; AUROC for AN vs HC comparison. |
| PPM023445 | PSS012190| East Asian Ancestry| 100,219 individuals |
PGP000783 | Chen H et al. Genome Med (2026) |
Reported Trait: Incident colorectal cancer | HR: 1.42 | C-index: 0.602 | — | sex; top 10 genetic principal components; healthy lifestyle index | Effect size reported per SD increase in PRS; Fine-Gray competing risk model. |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS012191 | Advanced colorectal neoplasia (CRC or advanced adenoma) vs controls in a population-based screening trial. | — | [
|
— | East Asian (Chinese) |
— | TARGETC | Participants underwent colonoscopy during baseline screening phase (subset with PRS available). |
| PSS012190 | Incident colorectal cancer cases identified by ICD-10 codes C18-C20 in a prospective cohort. | Median = 14.0 years | [
|
— | East Asian (Chinese) |
— | CKB | Genotyped CKB participants passing QC; participants with cancer at baseline excluded. |