PGS Publication: PGP000209

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.
Released in PGS Catalog: July 29, 2021

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Additional Diverse Ancestries
Not Reported

External PGS Evaluated 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)
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

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
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.

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
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
[
  • 173 cases
  • , 12,619 controls
]
,
45.1 % Male samples
Mean = 75.1 years
Sd = 4.2 years
European ASPREE