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
  • Stroke, Cerebral
  • CVA (cerebral vascular accident)
  • undetermined stroke
  • Apoplexy
  • Strokes
  • CVA (Cerebrovascular Accident)
  • Cerebrovascular Accidents, Acute
  • Cerebrovascular Stroke
  • Cerebrovascular Apoplexy
  • Stroke, Cerebrovascular
  • Brain Vascular Accident
  • Acute Cerebrovascular Accident
  • Acute Stroke
  • Cerebrovascular Apoplexya
  • Strokes, Cerebral
  • cerebrovascular accident
  • CVA
  • cerebral infarction
  • Strokes, Cerebrovascular
  • Cerebrovascular Accidents
  • Stroke/CVA - undefined
  • Cerebral Stroke
  • CVAs (Cerebrovascular Accident)
  • Vascular Accident, Brain
  • Cerebrovascular Accident, Acute
  • Stroke and cerebrovascular accident unspecified
  • Stroke NOS
  • syndrome, stroke
  • CVA - Cerebrovascular accident unspecified
  • Stroke, Acute
  • cerebrovascular accident, (CVA)
  • CVA - Cerebrovascular accident
  • Cerebrovascular Accident
  • Vascular Accidents, Brain
  • Cerebral Strokes
  • ischemic stroke
  • Strokes, Acute
  • Cerebrovascular Strokes
  • Brain Vascular Accidents
  • Apoplexy, Cerebrovascular
  • CVA, cerebrovascular accident
  • Stroke NOS (disorder)
  • Acute Strokes
  • Cerebrovascular accident (disorder)
  • stroke disorder
  • stroke syndrome
  • Stroke and cerebrovascular accident unspecified (disorder)
  • stroke
  • Acute Cerebrovascular Accidents
  • Cerebrovascular accident (disorder) [Ambiguous]
Mapped term(s) 12 mapped terms
  • MESH:D020521
  • HP:0001297
  • ICD10:I64
  • SCTID:230690007
  • NCIt:C3390
  • SNOMEDCT:422504002
  • MSH:D020521
  • OMIM:601367
  • MONDO:0005098
  • NCIT:C3390
  • SNOMEDCT:230690007
  • NIFSTD:birnlex_12783

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000038 PRS90 PGP000026
Rutten-Jacobs LC et al. BMJ (2018)
Stroke stroke 90
PGS000039 metaGRS_ischaemicstroke PGP000027
Abraham G et al. Nat Commun (2019)
Ischaemic stroke Ischemic stroke

PGS 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
Evaluated Score PGS Sample Set ID
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000092 PGS000038 (PRS90) PSS000058 PGP000027
Abraham G et al. (2019)
Reported Trait: Ischaemic stroke before age 75 HR: 1.13[1.1, 1.17] Sex, genotyping chip, 10 PCs
PPM000090 PGS000038 (PRS90) PSS000057 PGP000026
Rutten-Jacobs LC et al. (2018)
Reported Trait: Incident stroke [top 33%] vs. Low[bottom 33%] of genetic risk)" class="pgs_helptip">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 PGP000027
Abraham G et al. (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

Evaluated Samples

PGS Sample Set ID
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 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