PGS Publication: PGP000191

Publication Information (EuropePMC)
Title Performance of common genetic variants in risk prediction for colorectal cancer in Chinese: A two-stage and multicenter study.
PubMed ID 33545268(Europe PMC)
doi 10.1016/j.ygeno.2021.01.025
Publication Date Feb. 2, 2021
Journal Genomics
Author(s) He CY, Chen LZ, Wang ZX, Sun LP, Peng JJ, Wu MQ, Wang TM, Li YQ, Yang XH, Zhou DL, Ye ZL, Ma JJ, Li XZ, Zhang PF, Ju HQ, Mo HY, Zhang ZC, Zeng ZL, Shao JY, Jia WH, Cai SJ, Yuan Y, Xu RH.
Released in PGS Catalog: June 11, 2021

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS000802
(CRC_19)
 PGP000191 |
He CY et al. Genomics (2021)
 Colorectal cancer colorectal cancer 19
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000802/ScoringFiles/PGS000802.txt.gz

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) 		Evaluated Score 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
PPM002098 PGS000802
(CRC_19)
 PSS001032|
East Asian Ancestry|
2,566 individuals
 PGP000191 |
He CY et al. Genomics (2021)
 Reported Trait: Colorectal cancer — — Odds Ratio (OR, top 75% vs bottom 25%): 2.53 [1.99, 3.22] Gender, age —
PPM002099 PGS000802
(CRC_19)
 PSS001031|
East Asian Ancestry|
2,269 individuals
 PGP000191 |
He CY et al. Genomics (2021)
 Reported Trait: Colorectal cancer — — Odds Ratio (OR, top 75% vs bottom 25%): 2.12 [1.63, 2.77] Gender, age —
PPM002094 PGS000802
(CRC_19)
 PSS001033|
East Asian Ancestry|
5,465 individuals
 PGP000191 |
He CY et al. Genomics (2021)
 Reported Trait: Colorectal cancer — AUROC: 0.59 [0.57, 0.6] — — Possible overlap with score development samples
PPM002095 PGS000802
(CRC_19)
 PSS001032|
East Asian Ancestry|
2,566 individuals
 PGP000191 |
He CY et al. Genomics (2021)
 Reported Trait: Colorectal cancer — AUROC: 0.61 [0.59, 0.63] — — —
PPM002096 PGS000802
(CRC_19)
 PSS001031|
East Asian Ancestry|
2,269 individuals
 PGP000191 |
He CY et al. Genomics (2021)
 Reported Trait: Colorectal cancer — AUROC: 0.59 [0.57, 0.61] — — —
PPM002097 PGS000802
(CRC_19)
 PSS001033|
East Asian Ancestry|
5,465 individuals
 PGP000191 |
He CY et al. Genomics (2021)
 Reported Trait: Colorectal cancer — — Odds Ratio (OR, top 75% vs bottom 25%): 2.27 [1.95, 2.64] Gender, age possible overlap with score development samples

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
PSS001031 Exclusion criteria for healthy controls included subjects with polyposis, adenomas, and diseases related to or causing a predisposition for cancer. Cases included subjects with colorectal cancer, confirmed by endoscopic and histological examinations. —
[
  • 1,027 cases
  • , 1,242 controls
]
,
51.39 % Male samples
 — East Asian
(Han-Chinese)		 — NR Subects obtained from First Hospital of China Medical University (CMU)
PSS001032 Exclusion criteria for healthy controls included subjects with polyposis, adenomas, and diseases related to or causing a predisposition for cancer. Cases included subjects with colorectal cancer, confirmed by endoscopic and histological examinations. —
[
  • 1,152 cases
  • , 1,414 controls
]
,
53.86 % Male samples
 — East Asian
(Han-Chinese)		 — NR Subjects obtained from Fudan University Shanghai Cancer Center (FUSCC)
PSS001033 Exclusion criteria for healthy controls included subjects with polyposis, adenomas, and diseases related to or causing a predisposition for cancer. Cases included subjects with colorectal cancer, confirmed by endoscopic and histological examinations. —
[
  • 2,448 cases
  • , 3,017 controls
]
,
53.72 % Male samples
 — East Asian
(Han-Chinese)		 — NR Subjects obtained from Sun Yat-Sen University Cancer Center (SYSUCC)