Trait: stroke

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000712
Description A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event. [NCIT: C3390]
Trait categories
Cardiovascular disease
Neurological disorder
Synonyms 54 synonyms
  • Acute Cerebrovascular Accident
  • Acute Cerebrovascular Accidents
  • Acute Stroke
  • Acute Strokes
  • Apoplexy
  • Apoplexy, Cerebrovascular
  • Brain Vascular Accident
  • Brain Vascular Accidents
  • CEREBROVASCULAR ACCIDENT, (CVA)
  • CVA
  • CVA (Cerebrovascular Accident)
  • CVA (cerebral vascular accident)
  • CVA - Cerebrovascular accident
  • CVA - Cerebrovascular accident unspecified
  • CVA, CEREBROVASCULAR ACCIDENT
  • CVA, cerebrovascular accident
  • CVAs (Cerebrovascular Accident)
  • Cerebral Stroke
  • Cerebral Strokes
  • Cerebrovascular Accident
  • Cerebrovascular Accident, Acute
  • Cerebrovascular Accidents
  • Cerebrovascular Accidents, Acute
  • Cerebrovascular Apoplexy
  • Cerebrovascular Apoplexya
  • Cerebrovascular Stroke
  • Cerebrovascular Strokes
  • Cerebrovascular accident (disorder)
  • Cerebrovascular accident (disorder) [Ambiguous]
  • STROKE SYNDROME
  • SYNDROME, STROKE
  • Stroke NOS
  • Stroke NOS (disorder)
  • Stroke and cerebrovascular accident unspecified
  • Stroke and cerebrovascular accident unspecified (disorder)
  • Stroke, Acute
  • Stroke, Cerebral
  • Stroke, Cerebrovascular
  • Stroke/CVA - undefined
  • Strokes
  • Strokes, Acute
  • Strokes, Cerebral
  • Strokes, Cerebrovascular
  • Vascular Accident, Brain
  • Vascular Accidents, Brain
  • cerebral infarction
  • cerebrovascular accident
  • cerebrovascular accident, (CVA)
  • ischemic stroke
  • stroke
  • stroke disorder
  • stroke syndrome
  • syndrome, stroke
  • undetermined stroke
Mapped terms 13 mapped terms
  • HP:0001297
  • ICD10:I64
  • MESH:D020521
  • MONDO:0005098
  • MeSH:D020521
  • MedDRA:10042244
  • NCIT:C3390
  • NCIt:C3390
  • NIFSTD:birnlex_12783
  • OMIM:601367
  • SCTID:230690007
  • SNOMEDCT:230690007
  • SNOMEDCT:422504002

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
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS000038
(PRS90)
PGP000026 |
Rutten-Jacobs LC et al. BMJ (2018)
Stroke stroke 90
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000038/ScoringFiles/PGS000038.txt.gz
PGS000039
(metaGRS_ischaemicstroke)
PGP000027 |
Abraham G et al. Nat Commun (2019)
Ischaemic stroke stroke,
Ischemic stroke
3,225,583
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000039/ScoringFiles/PGS000039.txt.gz
PGS000665
(GRS_32)
PGP000125 |
Marston NA et al. Circulation (2020)
Ischemic stroke stroke,
Ischemic stroke
32
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000665/ScoringFiles/PGS000665.txt.gz
PGS000911
(PRS_IS)
PGP000239 |
O'Sullivan JW et al. Circ Genom Precis Med (2021)
Ischemic stroke stroke,
Ischemic stroke
530,933
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000911/ScoringFiles/PGS000911.txt.gz
PGS002259
(metaPRS_Stroke)
PGP000285 |
Lu X et al. Neurology (2021)
Stroke stroke 534
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002259/ScoringFiles/PGS002259.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
PPM000090 PGS000038
(PRS90)
PSS000057|
European Ancestry|
306,473 individuals
PGP000026 |
Rutten-Jacobs LC et al. BMJ (2018)
Reported Trait: Incident stroke HR (High [top 33%] vs. Low [bottom 33%] of genetic risk): 1.35 [1.21, 1.5] age, sex, 10 PCs of genetic ancestry, genotyping batch The best performing PRS (e.g. C+T thresholds) were selected based on this sample set, as well as being used for the evaluation.
PPM000092 PGS000038
(PRS90)
PSS000058|
European Ancestry|
395,393 individuals
PGP000027 |
Abraham G et al. Nat Commun (2019)
|Ext.
Reported Trait: Ischaemic stroke before age 75 HR: 1.13 [1.1, 1.17] Sex, genotyping chip, 10 PCs
PPM000091 PGS000039
(metaGRS_ischaemicstroke)
PSS000058|
European Ancestry|
395,393 individuals
PGP000027 |
Abraham G et al. Nat Commun (2019)
Reported Trait: Ischaemic stroke before age 75 HR: 1.26 [1.22, 1.31] C-index: 0.585 [0.574, 0.595] Sex, genotyping chip, 10 PCs
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.
PPM001373 PGS000665
(GRS_32)
PSS000602|
European Ancestry|
51,288 individuals
PGP000125 |
Marston NA et al. Circulation (2020)
Reported Trait: Incident ischemic stroke Hazard Ratio (HR, top vs. bottom tertile): 1.24 [1.05, 1.45]
Hazard Ratio (HR, intermediate vs. bottom tertile): 1.15 [0.98, 1.36]
age, sex, PCs(1-5), hypertension, hyperlipidemia, diabetes mellitus, smoking, bascular disease, congestive heart failure, atrial fibrillation
PPM001374 PGS000665
(GRS_32)
PSS000602|
European Ancestry|
51,288 individuals
PGP000125 |
Marston NA et al. Circulation (2020)
Reported Trait: Incident ischemic stroke C-index: 0.65 [0.63, 0.66] Clinical variables from the Revised Framingham Stroke Risk score, geographic region
PPM001375 PGS000665
(GRS_32)
PSS000601|
European Ancestry|
11,187 individuals
PGP000125 |
Marston NA et al. Circulation (2020)
Reported Trait: Incident ischemic stroke in individuals with atrial fibrillation Hazard Ratio (HR, top vs. bottom tertile): 1.29 [1.01, 1.64] age, sex, PCs(1-5), hypertension, hyperlipidemia, diabetes mellitus, smoking, bascular disease, congestive heart failure, atrial fibrillation, components of CHA2DS2-VASc score
PPM002960 PGS000911
(PRS_IS)
PSS001445|
European Ancestry|
15,929 individuals
PGP000239 |
O'Sullivan JW et al. Circ Genom Precis Med (2021)
Reported Trait: Ischemic stroke in atrial fibrillation cases OR: 1.14 [1.06, 1.23] Age at recruitment, sex, UK Biobank array type, PCs(1-10)
PPM002961 PGS000911
(PRS_IS)
PSS001445|
European Ancestry|
15,929 individuals
PGP000239 |
O'Sullivan JW et al. Circ Genom Precis Med (2021)
Reported Trait: Ischemic stroke in atrial fibrillation cases OR: 1.14 [1.06, 1.23] AUROC: 0.605 [0.583, 0.626] Age at recruitment, sex, UK Biobank array type, PCs(1-10), presence of warfarin prescription
PPM002962 PGS000911
(PRS_IS)
PSS001445|
European Ancestry|
15,929 individuals
PGP000239 |
O'Sullivan JW et al. Circ Genom Precis Med (2021)
Reported Trait: Ischemic stroke in atrial fibrillation cases who had not been prescribed warfarin OR: 1.14 [1.05, 1.24] Age at recruitment, sex, UK Biobank array type, PCs(1-10)
PPM002963 PGS000911
(PRS_IS)
PSS001445|
European Ancestry|
15,929 individuals
PGP000239 |
O'Sullivan JW et al. Circ Genom Precis Med (2021)
Reported Trait: Ischemic stroke in atrial fibrillation cases OR: 1.14 [1.06, 1.23] Age at recruitment, sex, UK Biobank array type, PCs(1-10), cumulative CHA2DS2-VASc score
PPM002964 PGS000911
(PRS_IS)
PSS001445|
European Ancestry|
15,929 individuals
PGP000239 |
O'Sullivan JW et al. Circ Genom Precis Med (2021)
Reported Trait: Ischemic stroke in atrial fibrillation cases OR: 1.14 Age at recruitment, sex, UK Biobank array type, PCs(1-10), individual components of CHA2DS2-VASc score
PPM002965 PGS000911
(PRS_IS)
PSS001445|
European Ancestry|
15,929 individuals
PGP000239 |
O'Sullivan JW et al. Circ Genom Precis Med (2021)
Reported Trait: Ischemic stroke in atrial fibrillation cases HR: 1.13 [1.04, 1.21] C-index: 0.56 [0.54, 0.58] Sex, UK Biobank array, PCs(1-10)
PPM002966 PGS000911
(PRS_IS)
PSS001445|
European Ancestry|
15,929 individuals
PGP000239 |
O'Sullivan JW et al. Circ Genom Precis Med (2021)
Reported Trait: Ischemic stroke in atrial fibrillation cases HR: 1.14 [1.01, 1.23] C-index: 0.56 [0.54, 0.58] Sex, age, UK Biobank array, PCs(1-10)
PPM002967 PGS000911
(PRS_IS)
PSS001445|
European Ancestry|
15,929 individuals
PGP000239 |
O'Sullivan JW et al. Circ Genom Precis Med (2021)
Reported Trait: Ischemic stroke in atrial fibrillation cases who had not been prescribed warfarin HR: 1.13 [1.04, 1.22] C-index: 0.57 [0.54, 0.59] Sex, UK Biobank array, PCs(1-10)
PPM002968 PGS000911
(PRS_IS)
PSS001445|
European Ancestry|
15,929 individuals
PGP000239 |
O'Sullivan JW et al. Circ Genom Precis Med (2021)
Reported Trait: Ischemic stroke in atrial fibrillation cases C-index: 0.61 [0.58, 0.63] Sex, UK Biobank array, PCs(1-10), cumulative CHA2DS2-VASc score
PPM012867 PGS002259
(metaPRS_Stroke)
PSS009585|
East Asian Ancestry|
41,006 individuals
PGP000285 |
Lu X et al. Neurology (2021)
Reported Trait: Incident stroke HR: 1.28 [1.21, 1.36] Hazard Ratio (HR, highest vs lowest quintile): 1.99 [1.66, 2.38] Sex
PPM012868 PGS002259
(metaPRS_Stroke)
PSS009585|
East Asian Ancestry|
41,006 individuals
PGP000285 |
Lu X et al. Neurology (2021)
Reported Trait: Incident ischemic stroke HR: 1.29 [1.2, 1.39] Hazard Ratio (HR, highest vs lowest quintile): 2.13 [1.69, 2.69] Sex
PPM012869 PGS002259
(metaPRS_Stroke)
PSS009585|
East Asian Ancestry|
41,006 individuals
PGP000285 |
Lu X et al. Neurology (2021)
Reported Trait: Incident hemorrhagic stroke HR: 1.3 [1.17, 1.45] Hazard Ratio (HR, highest vs lowest quintile): 1.98 [1.41, 2.77] Sex

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
PSS000602 The endpoint of interest was ischemic stroke. In each trial, ischemic stroke was formally adjudicated by an independent clinical endpoint committee blinded to treatment assignment. Median = 2.5 years
[
  • 960 cases
  • , 50,328 controls
]
,
71.7 % Male samples
Mean = 65.9 years
Sd = 9.2 years
European ENGAGE_AF-TIMI_48, FOURIER, PEGASUS-TIMI_54, SAVOR-TIMI_53, SOLID-TIMI_52
PSS000058 Prevalent and incident Ischaemic stroke; defined in http://biobank.ndph.ox.ac.uk/showcase/docs/alg_outcome_stroke.pdf Mean = 6.3 years
Sd = 1.9 years
[
  • 3,075 cases
  • , 392,318 controls
]
,
45.7 % Male samples
Mean = 54.3 years European UKB Validation set
PSS000057 Incident stroke in was defined based on the UK Biobank (UKB) algorithm, based on medical history and linkage to data on hospital admissions and mortality. The authors also subtyped ischaemic stroke, intracerebral haemorrhage, or subarachnoid haemorrhage. UKB Participants with genetic data were excluded from the analysis based on the following criteria: failing genetic quality control (missingness > 5%, sex mismatch, excessive heterozygosity), having a history of stroke or myocardial infarction (MI), self-report of stroke or MI, missing lifestyle information. Median = 7.1 years
[
  • 2,077 cases
  • , 304,396 controls
]
,
44.59 % Male samples
Mean = 56.7 years
Sd = 7.9 years
European Unrelated White British subset of UKB participants UKB
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
PSS001445 All individuals had a history of incident atrial fibrillation (AF) following enrollment. 2,310 individuals were taking warfarin. Cases were individuals with ischemic stroke (IS). IS was defined uisng the UKB codes: 131368, 42008. Of the 2,310 individuals taking warfarin, 93 were individuals with ischemic stroke (cases). Median = 7.0 years
[
  • 684 cases
  • , 15,245 controls
]
,
66.7 % Male samples
European UKB
PSS009585 Incident stroke as a confirmed diagnosis of first-ever fatal or nonfatal stroke event during follow-up (I60-I69) 41,006 individuals,
43.1 % Male samples
Mean = 51.9 years East Asian NR
PSS000601 All patients with atrial fibrillation and CHADS2 score of 2 or higher who were treated with anticoagulation. The endpoint of interest was ischemic stroke. In each trial, ischemic stroke was formally adjudicated by an independent clinical endpoint committee blinded to treatment assignment. Median = 2.8 years
[
  • 395 cases
  • , 10,792 controls
]
,
60.78 % Male samples
Mean = 70.8 years
Sd = 9.1 years
European ENGAGE_AF-TIMI_48