| Publication Information (EuropePMC) | |
| Title | Integration of questionnaire-based risk factors improves polygenic risk scores for human coronary heart disease and type 2 diabetes. |
| PubMed ID | 35197564(Europe PMC) |
| doi | 10.1038/s42003-021-02996-0 |
| Publication Date | Feb. 23, 2022 |
| Journal | Commun Biol |
| Author(s) | Tamlander M, Mars N, Pirinen M, FinnGen, Widén E, Ripatti S. |
| 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) |
|---|---|---|---|---|---|---|
| PGS001781 (T2D_PRSCS) |
PGP000261 | Tamlander M et al. Commun Biol (2022) |
Type 2 diabetes (T2D) | type 2 diabetes mellitus | 1,091,673 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001781/ScoringFiles/PGS001781.txt.gz |
| PGS001780 (CHD_PRSCS) |
PGP000261 | Tamlander M et al. Commun Biol (2022) |
Coronary heart disease | coronary artery disease | 1,090,048 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001780/ScoringFiles/PGS001780.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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM009277 | PGS001781 (T2D_PRSCS) |
PSS007684| European Ancestry| 309,154 individuals |
PGP000261 | Tamlander M et al. Commun Biol (2022) |
Reported Trait: Type 2 diabetes (incident and prevalent) | OR: 1.59 [1.57, 1.61] | AUROC: 0.758 [0.756, 0.761] | — | year of birth, sex, ten first principal components of Finnish ancestry, batch, genotyping array | — |
| PPM009281 | PGS001781 (T2D_PRSCS) |
PSS007685| European Ancestry| 279,879 individuals |
PGP000261 | Tamlander M et al. Commun Biol (2022) |
Reported Trait: Incident type 2 diabetes | OR: 1.52 [1.49, 1.55] | AUROC: 0.852 [0.849, 0.855] | — | year of birth, sex, ten first principal components of Finnish ancestry, batch, genotyping array | — |
| PPM009287 | PGS001781 (T2D_PRSCS) |
PSS007692| European Ancestry| 343,672 individuals |
PGP000261 | Tamlander M et al. Commun Biol (2022) |
Reported Trait: Prevalent type 2 diabetes | OR: 1.75 [1.72, 1.78] | AUROC: 0.725 [0.721, 0.729] | — | year of birth, sex | — |
| PPM009286 | PGS001780 (CHD_PRSCS) |
PSS007689| European Ancestry| 343,672 individuals |
PGP000261 | Tamlander M et al. Commun Biol (2022) |
Reported Trait: Prevalent coronary heart disease | OR: 1.77 [1.73, 1.8] | AUROC: 0.811 [0.808, 0.815] | — | year of birth, sex | — |
| PPM009276 | PGS001780 (CHD_PRSCS) |
PSS007681| European Ancestry| 309,154 individuals |
PGP000261 | Tamlander M et al. Commun Biol (2022) |
Reported Trait: Coronary heart disease (incident and prevalent) | OR: 1.56 [1.53, 1.58] | AUROC: 0.871 [0.869, 0.873] | — | year of birth, sex, ten first principal components of Finnish ancestry, batch, genotyping array | — |
| PPM009278 | PGS001780 (CHD_PRSCS) |
PSS007687| European Ancestry| 343,672 individuals |
PGP000261 | Tamlander M et al. Commun Biol (2022) |
Reported Trait: Coronary heart disease (incident and prevalent) | OR: 1.72 [1.7, 1.75] | AUROC: 0.792 [0.789, 0.795] | — | year of birth, sex | — |
| PPM009282 | PGS001780 (CHD_PRSCS) |
PSS007688| European Ancestry| 332,370 individuals |
PGP000261 | Tamlander M et al. Commun Biol (2022) |
Reported Trait: Incident coronary heart disease | OR: 1.61 [1.57, 1.65] | AUROC: 0.756 [0.751, 0.761] | — | year of birth, sex | — |
| PPM009283 | PGS001781 (T2D_PRSCS) |
PSS007691| European Ancestry| 328,115 individuals |
PGP000261 | Tamlander M et al. Commun Biol (2022) |
Reported Trait: Incident type 2 diabetes | OR: 1.51 [1.48, 1.54] | AUROC: 0.669 [0.664, 0.675] | — | year of birth, sex | — |
| PPM009284 | PGS001780 (CHD_PRSCS) |
PSS007683| European Ancestry| 309,154 individuals |
PGP000261 | Tamlander M et al. Commun Biol (2022) |
Reported Trait: Prevalent coronary heart disease | OR: 1.59 [1.57, 1.62] | AUROC: 0.869 [0.867, 0.871] | — | year of birth, sex, ten first principal components of Finnish ancestry, batch, genotyping array | — |
| PPM009285 | PGS001781 (T2D_PRSCS) |
PSS007686| European Ancestry| 309,154 individuals |
PGP000261 | Tamlander M et al. Commun Biol (2022) |
Reported Trait: Prevalent type 2 diabetes | OR: 1.59 [1.57, 1.61] | AUROC: 0.81 [0.808, 0.813] | — | year of birth, sex, ten first principal components of Finnish ancestry, batch, genotyping array | — |
| PPM009279 | PGS001781 (T2D_PRSCS) |
PSS007690| European Ancestry| 343,672 individuals |
PGP000261 | Tamlander M et al. Commun Biol (2022) |
Reported Trait: Type 2 diabetes (incident and prevalent) | OR: 1.68 [1.65, 1.7] | AUROC: 0.708 [0.705, 0.711] | — | year of birth, sex | — |
| PPM009280 | PGS001780 (CHD_PRSCS) |
PSS007682| European Ancestry| 291,720 individuals |
PGP000261 | Tamlander M et al. Commun Biol (2022) |
Reported Trait: Incident coronary heart disease | OR: 1.44 [1.41, 1.47] | AUROC: 0.913 [0.911, 0.916] | — | year of birth, sex, ten first principal components of Finnish ancestry, batch, genotyping array | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS007681 | Coronary heart disease was defined as Myocardial infarction | Coronary angioplasty | Coronary artery bypass grafting. ICD 8/9/10 codes are listed in Supplementary Data 1. National registeries were used to assess disease incidence. Follow-up ended at first-ever diagnosis of the disease of interest, death or at the end of follow-up on December 31, 2019, whichever came first. | Median = 15.3 years IQR = [7.8, 22.6] years |
[ ,
43.8 % Male samples |
Mean (Age At Baseline) = 53.2 years Sd = 17.4 years |
European (Finnish) |
— | FinnGen | — |
| PSS007682 | Coronary heart disease was defined as Myocardial infarction | Coronary angioplasty | Coronary artery bypass grafting. ICD 8/9/10 codes are listed in Supplementary Data 1. National registeries were used to assess disease incidence. Follow-up ended at first-ever diagnosis of the disease of interest, death or at the end of follow-up on December 31, 2019, whichever came first. | — | [ ,
42.2 % Male samples |
Mean (Age At Baseline) = 52.2 years Sd = 17.3 years |
European (Finnish) |
— | FinnGen | — |
| PSS007683 | Coronary heart disease was defined as Myocardial infarction | Coronary angioplasty | Coronary artery bypass grafting. ICD 8/9/10 codes are listed in Supplementary Data 1. National registeries were used to assess disease incidence. Follow-up ended at first-ever diagnosis of the disease of interest, death or at the end of follow-up on December 31, 2019, whichever came first. | — | [ ,
43.8 % Male samples |
Mean (Age At Baseline) = 53.2 years Sd = 17.4 years |
European (Finnish) |
— | FinnGen | — |
| PSS007684 | Type 2 diabetes was defined by a strict type 2 diabetes definition, that excluded type 1 diabetes, ICD 8/9/10 codes are listed in Supplementary Data 1. National registeries were used to assess disease incidence. Follow-up ended at first-ever diagnosis of the disease of interest, death or at the end of follow-up on December 31, 2019, whichever came first. | Median = 13.0 years IQR = [7.5, 19.7] years |
[ ,
43.8 % Male samples |
Mean (Age At Baseline) = 53.2 years Sd = 17.4 years |
European (Finnish) |
— | FinnGen | — |
| PSS007685 | Type 2 diabetes was defined by a strict type 2 diabetes definition, that excluded type 1 diabetes, ICD 8/9/10 codes are listed in Supplementary Data 1. National registeries were used to assess disease incidence. Follow-up ended at first-ever diagnosis of the disease of interest, death or at the end of follow-up on December 31, 2019, whichever came first. | — | [ ,
42.9 % Male samples |
Mean (Age At Baseline) = 51.8 years Sd = 17.4 years |
European (Finnish) |
— | FinnGen | — |
| PSS007686 | Type 2 diabetes was defined by a strict type 2 diabetes definition, that excluded type 1 diabetes, ICD 8/9/10 codes are listed in Supplementary Data 1. National registeries were used to assess disease incidence. Follow-up ended at first-ever diagnosis of the disease of interest, death or at the end of follow-up on December 31, 2019, whichever came first. | — | [ ,
43.8 % Male samples |
Mean (Age At Baseline) = 53.2 years Sd = 17.4 years |
European (Finnish) |
— | FinnGen | — |
| PSS007687 | Coronary heart disease was defined as Myocardial infarction | Coronary angioplasty | Coronary artery bypass grafting. ICD 9/10 codes are listed in Supplementary Data 1. National registeries were used to assess disease incidence. Follow-up ended at first-ever diagnosis of the disease of interest, death or at the censoring date of hospital inpatient data (UK Biobank; English hospital inpatient records up to May 2020, Scottish up to November 2016, Welsh up to March 2016), whichever came first. | Median = 10.7 years IQR = [8.6, 11.6] years |
[ ,
46.3 % Male samples |
Mean (Age At Baseline) = 57.4 years Sd = 8.0 years |
European (British) |
UK Biobank participants with non-British ancestry were excluded based on genetically inferred ancestry. | UKB | — |
| PSS007688 | Coronary heart disease was defined as Myocardial infarction | Coronary angioplasty | Coronary artery bypass grafting. ICD 9/10 codes are listed in Supplementary Data 1. National registeries were used to assess disease incidence. Follow-up ended at first-ever diagnosis of the disease of interest, death or at the censoring date of hospital inpatient data (UK Biobank; English hospital inpatient records up to May 2020, Scottish up to November 2016, Welsh up to March 2016), whichever came first. | — | [ ,
45.1 % Male samples |
Mean (Age At Baseline) = 57.2 years Sd = 8.0 years |
European (British) |
UK Biobank participants with non-British ancestry were excluded based on genetically inferred ancestry. | UKB | — |
| PSS007689 | Coronary heart disease was defined as Myocardial infarction | Coronary angioplasty | Coronary artery bypass grafting. ICD 9/10 codes are listed in Supplementary Data 1. National registeries were used to assess disease incidence. Follow-up ended at first-ever diagnosis of the disease of interest, death or at the censoring date of hospital inpatient data (UK Biobank; English hospital inpatient records up to May 2020, Scottish up to November 2016, Welsh up to March 2016), whichever came first. | — | [ ,
46.3 % Male samples |
Mean (Age At Baseline) = 57.4 years Sd = 8.0 years |
European (British) |
UK Biobank participants with non-British ancestry were excluded based on genetically inferred ancestry. | UKB | — |
| PSS007690 | Type 2 diabetes was defined by a strict type 2 diabetes definition, that excluded type 1 diabetes, ICD 9/10 codes are listed in Supplementary Data 1. National registeries were used to assess disease incidence. Follow-up ended at first-ever diagnosis of the disease of interest, death or at the censoring date of hospital inpatient data (UK Biobank; English hospital inpatient records up to May 2020, Scottish up to November 2016, Welsh up to March 2016), whichever came first. | Median = 10.4 years IQR = [8.3, 11.3] years |
[ ,
46.3 % Male samples |
Mean (Age At Baseline) = 57.4 years Sd = 8.0 years |
European (British) |
UK Biobank participants with non-British ancestry were excluded based on genetically inferred ancestry. | UKB | — |
| PSS007691 | Type 2 diabetes was defined by a strict type 2 diabetes definition, that excluded type 1 diabetes, ICD 9/10 codes are listed in Supplementary Data 1. National registeries were used to assess disease incidence. Follow-up ended at first-ever diagnosis of the disease of interest, death or at the censoring date of hospital inpatient data (UK Biobank; English hospital inpatient records up to May 2020, Scottish up to November 2016, Welsh up to March 2016), whichever came first. | — | [ ,
45.5 % Male samples |
Mean (Age At Baseline) = 57.2 years Sd = 8.0 years |
European (British) |
UK Biobank participants with non-British ancestry were excluded based on genetically inferred ancestry. | UKB | — |
| PSS007692 | Type 2 diabetes was defined by a strict type 2 diabetes definition, that excluded type 1 diabetes, ICD 9/10 codes are listed in Supplementary Data 1. National registeries were used to assess disease incidence. Follow-up ended at first-ever diagnosis of the disease of interest, death or at the censoring date of hospital inpatient data (UK Biobank; English hospital inpatient records up to May 2020, Scottish up to November 2016, Welsh up to March 2016), whichever came first. | — | [ ,
46.3 % Male samples |
Mean (Age At Baseline) = 57.4 years Sd = 8.0 years |
European (British) |
UK Biobank participants with non-British ancestry were excluded based on genetically inferred ancestry. | UKB | — |