PGS Publication: PGP000562

Publication Information (EuropePMC)
Title High-Resolution Genotyping of Formalin-Fixed Tissue Accurately Estimates Polygenic Risk Scores in Human Diseases.
PubMed ID 38220043(Europe PMC)
doi 10.1016/j.labinv.2024.100325
Publication Date Jan. 15, 2024
Journal Lab Invest
Author(s) Youssef O, Loukola A, Zidi-Mouaffak YHS, Tamlander M, Ruotsalainen S, Kilpeläinen E, Mars N, Ripatti S, FinnGen, Palotie A, Donner K, Carpén O.
Released in PGS Catalog: Feb. 20, 2024

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:
Display options:
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)
PGS004581
(PRCA_PRSCS)
 PGP000562 |
Youssef O et al. Lab Invest (2024)
 Prostate cancer prostate carcinoma 1,102,292
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004581/ScoringFiles/PGS004581.txt.gz
PGS004579
(BRCA_PRSCS)
 PGP000562 |
Youssef O et al. Lab Invest (2024)
 Breast cancer breast carcinoma 1,088,163
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004579/ScoringFiles/PGS004579.txt.gz
PGS004580
(CRC_PRSCS)
 PGP000562 |
Youssef O et al. Lab Invest (2024)
 Colorectal cancer colorectal carcinoma 1,099,906
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004580/ScoringFiles/PGS004580.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
PPM020694 PGS004579
(BRCA_PRSCS)
 PSS011365|
European Ancestry|
190,879 individuals
 PGP000562 |
Youssef O et al. Lab Invest (2024)
 Reported Trait: Breast cancer OR: 1.76 [1.73, 1.79] — — — —
PPM020695 PGS004580
(CRC_PRSCS)
 PSS011366|
European Ancestry|
342,499 individuals
 PGP000562 |
Youssef O et al. Lab Invest (2024)
 Reported Trait: Colorectal cancer OR: 1.5 [1.46, 1.55] — — — —
PPM020696 PGS004581
(PRCA_PRSCS)
 PSS011367|
European Ancestry|
151,620 individuals
 PGP000562 |
Youssef O et al. Lab Invest (2024)
 Reported Trait: Prostate cancer OR: 2.13 [2.08, 2.17] — — — —

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
PSS011366 — —
[
  • 337,041 cases
  • , 5,458 controls
]
,
44.0 % Male samples
 — European
(Finnish)		 — FinnGen —
PSS011367 — —
[
  • 140,030 cases
  • , 11,590 controls
]
,
100.0 % Male samples
 — European
(Finnish)		 — FinnGen —
PSS011365 — —
[
  • 176,879 cases
  • , 14,000 controls
]
,
0.0 % Male samples
 — European
(Finnish)		 — FinnGen —