Publication Information (EuropePMC) | |
Title | African-specific improvement of a polygenic hazard score for age at diagnosis of prostate cancer. |
PubMed ID | 32930425(Europe PMC) |
doi | 10.1002/ijc.33282 |
Publication Date | Sept. 24, 2020 |
Journal | Int J Cancer |
Author(s) | Karunamuni RA, Huynh-Le MP, Fan CC, Thompson W, Eeles RA, Kote-Jarai Z, Muir K, UKGPCS Collaborators, Lophatananon A, Tangen CM, Goodman PJ, Thompson IM, Blot WJ, Zheng W, Kibel AS, Drake BF, Cussenot O, Cancel-Tassin G, Menegaux F, Truong T, Park JY, Lin HY, Bensen JT, Fontham ETH, Mohler JL, Taylor JA, Multigner L, Blanchet P, Brureau L, Romana M, Leach RJ, John EM, Fowke J, Bush WS, Aldrich M, Crawford DC, Srivastava S, Cullen JC, Petrovics G, Parent MÉ, Hu JJ, Sanderson M, Mills IG, Andreassen OA, Dale AM, Seibert TM, PRACTICAL Consortium. |
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) |
---|---|---|---|---|---|---|
PGS000733 (PHS46+African) |
PGP000139 | Karunamuni RA et al. Int J Cancer (2020) |
Prostate cancer | prostate carcinoma | 49 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000733/ScoringFiles/PGS000733.txt.gz |
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) |
---|---|---|---|---|---|---|
PGS000067 (PCa_PHS) |
PGP000047 | Seibert TM et al. BMJ (2018) |
Prostate cancer | prostate carcinoma | 54 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000067/ScoringFiles/PGS000067.txt.gz |
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 |
---|---|---|---|---|---|---|---|---|---|
PPM001674 | PGS000733 (PHS46+African) |
PSS000874| African Ancestry| 6,271 individuals |
PGP000139 | Karunamuni RA et al. Int J Cancer (2020) |
Reported Trait: Age at diagnosis of any prostate cancer | — | — | Hazard Ratio (HR top 20% vs. bottom 20%): 4.42 [4.16, 4.67] | — | Overlap between score development and testing samples for 3 new SNPs - 10-fold cross-validation |
PPM001675 | PGS000067 (PCa_PHS) |
PSS000874| African Ancestry| 6,271 individuals |
PGP000139 | Karunamuni RA et al. Int J Cancer (2020) |Ext. |
Reported Trait: Age at diagnosis of any prostate cancer | — | — | Hazard Ratio (HR top 2% vs. middle 40%): 2.1 [1.99, 2.21] | — | 46 of the score's 54 SNPs were used: 24 directly genotyped, and 22 with acceptable proxies (r2>0.94). |
PPM001676 | PGS000733 (PHS46+African) |
PSS000874| African Ancestry| 6,271 individuals |
PGP000139 | Karunamuni RA et al. Int J Cancer (2020) |
Reported Trait: Age at diagnosis of any prostate cancer | — | — | Hazard Ratio (HR top 2% vs. middle 40%): 3.67 [3.48, 3.87] | — | Overlap between score development and testing samples for 3 new SNPs - 10-fold cross-validation |
PPM001677 | PGS000067 (PCa_PHS) |
PSS000874| African Ancestry| 6,271 individuals |
PGP000139 | Karunamuni RA et al. Int J Cancer (2020) |Ext. |
Reported Trait: Age at diagnosis of any prostate cancer | — | — | Hazard Ratio (HR bottom 20% vs. middle 40%): 0.65 [0.63, 0.67] | — | 46 of the score's 54 SNPs were used: 24 directly genotyped, and 22 with acceptable proxies (r2>0.94). |
PPM001678 | PGS000733 (PHS46+African) |
PSS000874| African Ancestry| 6,271 individuals |
PGP000139 | Karunamuni RA et al. Int J Cancer (2020) |
Reported Trait: Age at diagnosis of any prostate cancer | — | — | Hazard Ratio (HR bottom 20% vs. middle 40%): 0.51 [0.49, 0.52] | — | Overlap between score development and testing samples for 3 new SNPs - 10-fold cross-validation |
PPM001679 | PGS000067 (PCa_PHS) |
PSS000874| African Ancestry| 6,271 individuals |
PGP000139 | Karunamuni RA et al. Int J Cancer (2020) |Ext. |
Reported Trait: Age at diagnosis of clinically significant prostate cancer | — | — | Hazard Ratio (HR top 20% vs. bottom 20%): 2.21 [2.04, 2.38] | — | 46 of the score's 54 SNPs were used: 24 directly genotyped, and 22 with acceptable proxies (r2>0.94). |
PPM001680 | PGS000733 (PHS46+African) |
PSS000874| African Ancestry| 6,271 individuals |
PGP000139 | Karunamuni RA et al. Int J Cancer (2020) |
Reported Trait: Age at diagnosis of clinically significant prostate cancer | — | — | Hazard Ratio (top 20% vs. bottom 20%): 4.71 [4.38, 5.05] | — | Overlap between score development and testing samples for 3 new SNPs - 10-fold cross-validation |
PPM001682 | PGS000733 (PHS46+African) |
PSS000874| African Ancestry| 6,271 individuals |
PGP000139 | Karunamuni RA et al. Int J Cancer (2020) |
Reported Trait: Age at diagnosis of clinically significant prostate cancer | — | — | Hazard Ratio (top 2% vs. middle 40%): 3.89 [3.64, 4.13] | — | Overlap between score development and testing samples for 3 new SNPs - 10-fold cross-validation |
PPM001683 | PGS000067 (PCa_PHS) |
PSS000874| African Ancestry| 6,271 individuals |
PGP000139 | Karunamuni RA et al. Int J Cancer (2020) |Ext. |
Reported Trait: Age at diagnosis of clinically significant prostate cancer | — | — | Hazard Ratio (bottom 20% vs. middle 40%): 0.7 [0.68, 0.73] | — | 46 of the score's 54 SNPs were used: 24 directly genotyped, and 22 with acceptable proxies (r2>0.94). |
PPM001684 | PGS000733 (PHS46+African) |
PSS000874| African Ancestry| 6,271 individuals |
PGP000139 | Karunamuni RA et al. Int J Cancer (2020) |
Reported Trait: Age at diagnosis of clinically significant prostate cancer | — | — | Hazard Ratio (bottom 20% vs. middle 40%): 0.5 [0.48, 0.52] | — | Overlap between score development and testing samples for 3 new SNPs - 10-fold cross-validation |
PPM001681 | PGS000067 (PCa_PHS) |
PSS000874| African Ancestry| 6,271 individuals |
PGP000139 | Karunamuni RA et al. Int J Cancer (2020) |Ext. |
Reported Trait: Age at diagnosis of clinically significant prostate cancer | — | — | Hazard Ratio (top 2% vs. middle 40%): 1.91 [1.79, 2.04] | — | 46 of the score's 54 SNPs were used: 24 directly genotyped, and 22 with acceptable proxies (r2>0.94). |
PPM001673 | PGS000067 (PCa_PHS) |
PSS000874| African Ancestry| 6,271 individuals |
PGP000139 | Karunamuni RA et al. Int J Cancer (2020) |Ext. |
Reported Trait: Age at diagnosis of any prostate cancer | — | — | Hazard Ratio (HR top 20% vs. bottom 20%): 2.47 [2.32, 2.62] | — | 46 of the score's 54 SNPs were used: 24 directly genotyped, and 22 with acceptable proxies (r2>0.94). |
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 |
---|---|---|---|---|---|---|---|---|
PSS000874 | Clinically significant cancer were any of: Gleason score ≥ 7, stage T3-T4, PSA concentration ≥ 10 ng/mL, pelvic lymph nodal metastasis or distant metastasis. | — | [ ,
100.0 % Male samples |
— | African unspecified | — | 18 cohorts
|
PRACTICAL consortium |