Publication Information (EuropePMC) | |
Title | Predictive Performance of a Polygenic Risk Score for Incident Ischemic Stroke in a Healthy Older Population. |
PubMed ID | 34039031(Europe PMC) |
doi | 10.1161/strokeaha.120.033670 |
Publication Date | May 27, 2021 |
Journal | Stroke |
Author(s) | Neumann JT, Riaz M, Bakshi A, Polekhina G, Thao LTP, Nelson MR, Woods RL, Abraham G, Inouye M, Reid CM, Tonkin AM, Williamson JD, Donnan GA, Brodtmann A, Cloud GC, McNeil JJ, Lacaze P. |
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) |
---|---|---|---|---|---|---|
PGS000039 (metaGRS_ischaemicstroke) |
PGP000027 | Abraham G et al. Nat Commun (2019) |
Ischemic stroke | stroke, Ischemic stroke |
3,225,583 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000039/ScoringFiles/PGS000039.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 |
---|---|---|---|---|---|---|---|---|---|
PPM002221 | PGS000039 (metaGRS_ischaemicstroke) |
PSS001082| European Ancestry| 12,792 individuals |
PGP000209 | Neumann JT et al. Stroke (2021) |Ext. |
Reported Trait: Incident ischemic stroke | HR: 1.41 [1.2, 1.65] | AUROC: 0.685 [0.64, 0.73] | Hazard Ratio (HR, top 33.3% vs bottom 33.3%): 1.74 [1.19, 2.56] | Age, sex, smoking status (current or former versus never), systolic blood pressure, non-high-density lipoprotein cholesterol, high-density lipoprotein cholesterol, body mass index, alcohol consumption (current versus former or never consumption), family history of stroke (event occuring before the age of 50 in a first-degree relative), diabetes, randomization to aspirin | Only 3,219,276 SNPs from PGS000039 were utilised due to variant identifier mismatch. Only 12,405 individuals (171 cases) were used due to missing values. For AUROC values this was 11,385 individuals (158 cases). |
PPM002222 | PGS000039 (metaGRS_ischaemicstroke) |
PSS001082| European Ancestry| 12,792 individuals |
PGP000209 | Neumann JT et al. Stroke (2021) |Ext. |
Reported Trait: Incident ischemic stroke | — | — | Net reclassification index (NRI): 0.252 [0.175, 0.434] | Age, sex, smoking status (current or former versus never), systolic blood pressure, non-high-density lipoprotein cholesterol, high-density lipoprotein cholesterol, body mass index, alcohol consumption (current versus former or never consumption), family history of stroke (event occuring before the age of 50 in a first-degree relative), diabetes, randomization to aspirin | Only 3,219,276 SNPs from PGS000039 were utilised due to variant identifier mismatch. Only 11,385 individuals (158 cases) were used. |
PPM002223 | PGS000039 (metaGRS_ischaemicstroke) |
PSS001082| European Ancestry| 12,792 individuals |
PGP000209 | Neumann JT et al. Stroke (2021) |Ext. |
Reported Trait: Incident ischemic stroke | HR: 1.43 [1.22, 1.68] | — | — | Age, sex, smoking status (current or former versus never), systolic blood pressure, non-high-density lipoprotein cholesterol, high-density lipoprotein cholesterol, body mass index, alcohol consumption (current versus former or never consumption), family history of stroke (event occuring before the age of 50 in a first-degree relative), diabetes, randomization to aspirin, PCs(1-10) | Only 3,219,276 SNPs from PGS000039 were utilised due to variant identifier mismatch. Only 12,405 individuals (171 cases) were used due to missing values. |
PPM002224 | PGS000039 (metaGRS_ischaemicstroke) |
PSS001082| European Ancestry| 12,792 individuals |
PGP000209 | Neumann JT et al. Stroke (2021) |Ext. |
Reported Trait: Incident ischemic stroke | HR: 1.43 [1.22, 1.68] | — | — | Age, sex, smoking status (current or former versus never), systolic blood pressure, non-high-density lipoprotein cholesterol, high-density lipoprotein cholesterol, body mass index, alcohol consumption (current versus former or never consumption), family history of stroke (event occuring before the age of 50 in a first-degree relative), diabetes, randomization to aspirin, intake of antihypertensive drugs, intake of statin | Only 3,219,276 SNPs from PGS000039 were utilised due to variant identifier mismatch. Only 12,405 individuals (171 cases) were used due to missing values. |
PPM002225 | PGS000039 (metaGRS_ischaemicstroke) |
PSS001082| European Ancestry| 12,792 individuals |
PGP000209 | Neumann JT et al. Stroke (2021) |Ext. |
Reported Trait: Incident ischemic stroke | HR: 1.41 [1.2, 1.66] | — | — | Age, sex, smoking status (current or former versus never), systolic blood pressure, non-high-density lipoprotein cholesterol, high-density lipoprotein cholesterol, body mass index, alcohol consumption (current versus former or never consumption), family history of stroke (event occuring before the age of 50 in a first-degree relative), diabetes, randomization to aspirin, index of relative socio-economic advantage and disadvantage(1-10) | Only 3,219,276 SNPs from PGS000039 were utilised due to variant identifier mismatch. Only 12,405 individuals (171 cases) were used due to missing values. |
PPM002226 | PGS000039 (metaGRS_ischaemicstroke) |
PSS001082| European Ancestry| 12,792 individuals |
PGP000209 | Neumann JT et al. Stroke (2021) |Ext. |
Reported Trait: Incident ischemic stroke | HR: 1.4 [1.2, 1.64] | — | — | Age, sex, systolic blood pressure, non-high-density lipoprotein cholesterol, high-density lipoprotein cholesterol, alcohol consumption (current versus former or never consumption) | Only 3,219,276 SNPs from PGS000039 were utilised due to variant identifier mismatch. Only 12,405 individuals (171 cases) were used due to missing values. |
PPM002227 | PGS000039 (metaGRS_ischaemicstroke) |
PSS001082| European Ancestry| 12,792 individuals |
PGP000209 | Neumann JT et al. Stroke (2021) |Ext. |
Reported Trait: Incident ischemic stroke | — | AUROC: 0.582 [0.537, 0.628] | — | — | Only 3,219,276 SNPs from PGS000039 were utilised due to variant identifier mismatch. For AUROC values only 11,385 individuals (158 cases) were used. |
PPM002228 | PGS000039 (metaGRS_ischaemicstroke) |
PSS001082| European Ancestry| 12,792 individuals |
PGP000209 | Neumann JT et al. Stroke (2021) |Ext. |
Reported Trait: Incident large vessel ischemic stroke | HR: 1.43 [1.05, 1.94] | — | — | Age, sex, smoking status (current or former versus never), systolic blood pressure, non-high-density lipoprotein cholesterol, high-density lipoprotein cholesterol, body mass index, alcohol consumption (current versus former or never consumption), family history of stroke (event occuring before the age of 50 in a first-degree relative), diabetes, randomization to aspirin | Only 3,219,276 SNPs from PGS000039 were utilised due to variant identifier mismatch. |
PPM002229 | PGS000039 (metaGRS_ischaemicstroke) |
PSS001082| European Ancestry| 12,792 individuals |
PGP000209 | Neumann JT et al. Stroke (2021) |Ext. |
Reported Trait: Incident cardiometabolic ischemic stroke | HR: 1.74 [1.24, 2.43] | — | — | Age, sex, smoking status (current or former versus never), systolic blood pressure, non-high-density lipoprotein cholesterol, high-density lipoprotein cholesterol, body mass index, alcohol consumption (current versus former or never consumption), family history of stroke (event occuring before the age of 50 in a first-degree relative), diabetes, randomization to aspirin | Only 3,219,276 SNPs from PGS000039 were utilised due to variant identifier mismatch. |
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 |
---|---|---|---|---|---|---|---|---|
PSS001082 | Cases were individuals who had experienced an ischemic stroke (IS) event. IS was defined according to the World Health Organization definition and included imaging by computed tomography or magnetic resonance imaging in the majority of cases. All cases of IS were further divided into subtypes of large vessel (n=49), small vessel (n=43), cardioembolic (n=36), and undetermined. Undetermined strokes had undetermined causes, multiple causes identified, or an incomplete evaluation made. All stroke events were assessed by an adjudication committee, blinded to the identity of participants and study treatment group assignment. | Median = 4.7 years IQR = [3.6, 5.7] years |
[ ,
45.1 % Male samples |
Mean = 75.1 years Sd = 4.2 years |
European | — | ASPREE | — |