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 category
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 term(s) 12 mapped terms
  • HP:0001297
  • ICD10:I64
  • MESH:D020521
  • MONDO:0005098
  • MeSH:D020521
  • 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 PGS Scoring File (FTP Link)
PGS000038
(PRS90)
PGP000026 |
Rutten-Jacobs LC et al. BMJ (2018)
Stroke stroke 90
-
http://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 Ischemic stroke,
stroke
3,225,583
http://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 Ischemic stroke,
stroke
32
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000665/ScoringFiles/PGS000665.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.
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
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
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
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
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

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
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
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
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