Trait: cerebrovascular disorder

Experimental Factor Ontology (EFO) Information
Identifier EFO_0003763
Description A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction. [NCIT: C2938]
Trait categories
Cardiovascular disease
Neurological disorder
Synonyms 28 synonyms
  • BRAIN VASCULAR DIS
  • Brain Vascular Disorder
  • Brain Vascular Disorders
  • CEREBROVASCULAR DIS
  • Cerebrovascular Disease
  • Cerebrovascular Disorders
  • Cerebrovascular Insufficiencies
  • Cerebrovascular Insufficiency
  • Cerebrovascular Occlusion
  • Cerebrovascular Occlusions
  • INTRACRANIAL VASCULAR DIS
  • Insufficiencies, Cerebrovascular
  • Insufficiency, Cerebrovascular
  • Intracranial Vascular Disease
  • Intracranial Vascular Diseases
  • Intracranial Vascular Disorder
  • Intracranial Vascular Disorders
  • Occlusion, Cerebrovascular
  • Occlusions, Cerebrovascular
  • VASCULAR DIS INTRACRANIAL
  • Vascular Disease, Intracranial
  • Vascular Diseases, Intracranial
  • Vascular Disorder, Brain
  • Vascular Disorder, Intracranial
  • Vascular Disorders, Brain
  • Vascular Disorders, Intracranial
  • cerebrovascular disease
  • cerebrovascular disorder
Mapped terms 19 mapped terms
  • DOID:6713
  • ICD10:I66
  • ICD10:I67
  • ICD10:I69
  • ICD10CM:I60-I69
  • ICD9:430-438.99
  • ICD9:434.91
  • ICD9:437.8
  • ICD9:437.9
  • MESH:D002561
  • MONDO:0011057
  • MeSH:D002561
  • MedDRA:10008196
  • MedDRA:10008200
  • NCIT:C2938
  • NCIt:C2938
  • SCTID:62914000
  • SNOMEDCT:62914000
  • UMLS:C0007820
Child trait(s) 3 child traits

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
Note: This table shows all PGS for "cerebrovascular disorder" and any child terms of this trait in the EFO hierarchy by default.
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
PGS001179
(GBE_HC711)
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Vascular dementia (time-to-event) vascular dementia 7
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001179/ScoringFiles/PGS001179.txt.gz
PGS001793
(1kgeur_gbmi_leaveUKBBout_Stroke_pst_eff_a1_b0.5_phiauto)
PGP000262 |
Wang Y et al. medRxiv (2021)
|Pre
Stroke stroke 910,099
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001793/ScoringFiles/PGS001793.txt.gz
PGS001798
(1kgeur_gbmi_Stroke_pst_eff_a1_b0.5_phiauto)
PGP000262 |
Wang Y et al. medRxiv (2021)
|Pre
Stroke stroke 884,168
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001798/ScoringFiles/PGS001798.txt.gz
PGS002052
(portability-ldpred2_433.1)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Occlusion and stenosis of precerebral arteries occlusion precerebral artery 490,459
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002052/ScoringFiles/PGS002052.txt.gz
PGS002053
(portability-ldpred2_433)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Cerebrovascular disease cerebrovascular disorder 599,726
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002053/ScoringFiles/PGS002053.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
PGS002724
(GIGASTROKE_iPGS_EUR)
PGP000333 |
Mishra A et al. Nature (2022)
Ischemic stroke stroke,
Ischemic stroke
1,213,574
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002724/ScoringFiles/PGS002724.txt.gz
PGS002725
(GIGASTROKE_iPGS_EAS)
PGP000333 |
Mishra A et al. Nature (2022)
Ischemic stroke stroke,
Ischemic stroke
6,010,730
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002725/ScoringFiles/PGS002725.txt.gz
PGS002770
(Stroke_prscs)
PGP000364 |
Mars N et al. Am J Hum Genet (2022)
Stroke stroke 1,088,719
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002770/ScoringFiles/PGS002770.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.
PPM012987 PGS000039
(metaGRS_ischaemicstroke)
PSS009641|
European Ancestry|
3,071 individuals
PGP000315 |
Hämmerle M et al. Stroke (2022)
|Ext.
Reported Trait: Stroke Odds ratio (OR, top 1% vs. rest): 5.82 [2.08, 14.0] Age, sex, BMI, hypertension, cholesterol, diabetes, smoker
PPM014737 PGS000039
(metaGRS_ischaemicstroke)
PSS009879|
European Ancestry|
403,489 individuals
PGP000333 |
Mishra A et al. Nature (2022)
|Ext.
Reported Trait: incident ischemic stroke cases HR: 1.13 [1.1, 1.15] C-index: 0.64 ∆C-index (improvement in C-index over covariates-only model): 0.006 age, sex, 5 PCs
PPM014739 PGS000039
(metaGRS_ischaemicstroke)
PSS009876|
European Ancestry|
51,288 individuals
PGP000333 |
Mishra A et al. Nature (2022)
|Ext.
Reported Trait: incident ischemic stroke cases HR: 1.14 [1.06, 1.21] C-index: 0.641 ∆C-index (improvement in C-index over covariates-only model): 0.006 age, sex, 5 PCs
PPM014741 PGS000039
(metaGRS_ischaemicstroke)
PSS009878|
African Ancestry|
107,343 individuals
PGP000333 |
Mishra A et al. Nature (2022)
|Ext.
Reported Trait: incident ischemic stroke cases HR: 1.09 [1.04, 1.14] C-index: 0.652 ∆C-index (improvement in C-index over covariates-only model): 0.002 age, sex, 5 PCs
PPM014748 PGS000039
(metaGRS_ischaemicstroke)
PSS009881|
East Asian Ancestry|
87,682 individuals
PGP000333 |
Mishra A et al. Nature (2022)
|Ext.
Reported Trait: prevalent ischemic stroke cases OR: 1.1 [1.04, 1.16] AUROC: 0.763 ∆AUROC (improvement in AUROC over covariates-only model): 0.001 age, sex, 5 PCs
PPM014735 PGS000039
(metaGRS_ischaemicstroke)
PSS009877|
European Ancestry|
102,099 individuals
PGP000333 |
Mishra A et al. Nature (2022)
|Ext.
Reported Trait: incident ischemic stroke cases HR: 1.19 [1.12, 1.26] C-index: 0.618 ∆C-index (improvement in C-index over covariates-only model): 0.014 age, sex, 5 PCs
PPM014743 PGS000039
(metaGRS_ischaemicstroke)
PSS009880|
African Ancestry|
3,434 individuals
PGP000333 |
Mishra A et al. Nature (2022)
|Ext.
Reported Trait: prevalent ischemic stroke cases OR: 1.07 [1.0, 1.15] AUROC: 0.547 ∆AUROC (improvement in AUROC over covariates-only model): 0.006 age, sex, 5 PCs
PPM014746 PGS000039
(metaGRS_ischaemicstroke)
PSS009875|
East Asian Ancestry|
41,929 individuals
PGP000333 |
Mishra A et al. Nature (2022)
|Ext.
Reported Trait: prevalent ischemic stroke cases OR: 1.17 [1.11, 1.23] AUROC: 0.641 ∆AUROC (improvement in AUROC over covariates-only model): 0.007 age, sex, 5 PCs
PPM016151 PGS000039
(metaGRS_ischaemicstroke)
PSS010050|
Ancestry Not Reported|
454,756 individuals
PGP000401 |
Cho BPH et al. JAMA Neurol (2022)
|Ext.
Reported Trait: Stroke HR: 1.23 [1.2, 1.26] age, sex, ethnicity, exome sequencing batch, and the first 10 principal components of genetic ancestry
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
PPM008585 PGS001179
(GBE_HC711)
PSS004618|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE vascular dementia AUROC: 0.89609 [0.78011, 1.0] : 0.23133
Incremental AUROC (full-covars): -0.00271
PGS R2 (no covariates): 0.00098
PGS AUROC (no covariates): 0.45314 [0.26337, 0.6429]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008586 PGS001179
(GBE_HC711)
PSS004619|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE vascular dementia AUROC: 0.86436 [0.80883, 0.91989] : 0.14328
Incremental AUROC (full-covars): 0.00289
PGS R2 (no covariates): 0.00776
PGS AUROC (no covariates): 0.59245 [0.49395, 0.69095]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008587 PGS001179
(GBE_HC711)
PSS004620|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE vascular dementia AUROC: 0.83842 [0.72824, 0.9486] : 0.14604
Incremental AUROC (full-covars): 0.00843
PGS R2 (no covariates): 0.0135
PGS AUROC (no covariates): 0.61894 [0.47358, 0.76431]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008588 PGS001179
(GBE_HC711)
PSS004621|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
Reported Trait: TTE vascular dementia AUROC: 0.82562 [0.78593, 0.86531] : 0.10475
Incremental AUROC (full-covars): 0.00707
PGS R2 (no covariates): 0.01123
PGS AUROC (no covariates): 0.61306 [0.55366, 0.67245]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009306 PGS001793
(1kgeur_gbmi_leaveUKBBout_Stroke_pst_eff_a1_b0.5_phiauto)
PSS007705|
Additional Asian Ancestries|
8,091 individuals
PGP000262 |
Wang Y et al. medRxiv (2021)
|Pre
Reported Trait: Stroke AUROC: 0.745 Nagelkerke's R2 (covariates regressed out): 0.01187 sex,age,age2,age*sex,age^2*sex, 20PCs
PPM009297 PGS001793
(1kgeur_gbmi_leaveUKBBout_Stroke_pst_eff_a1_b0.5_phiauto)
PSS007716|
European Ancestry|
350,408 individuals
PGP000262 |
Wang Y et al. medRxiv (2021)
|Pre
Reported Trait: Stroke AUROC: 0.706 Nagelkerke's R2 (covariates regressed out): 0.00278 sex,age,age2,age*sex,age^2*sex, 20PCs
PPM009314 PGS001798
(1kgeur_gbmi_Stroke_pst_eff_a1_b0.5_phiauto)
PSS007696|
European Ancestry|
7,128 individuals
PGP000262 |
Wang Y et al. medRxiv (2021)
|Pre
Reported Trait: Stroke AUROC: 0.704 Nagelkerke's R2 (covariates regressed out): 0.00746 sex,age, 20PCs
PPM011278 PGS002052
(portability-ldpred2_433.1)
PSS009316|
European Ancestry|
19,445 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Occlusion and stenosis of precerebral arteries Partial Correlation (partial-r): 0.0199 [0.0058, 0.034] sex, age, birth date, deprivation index, 16 PCs
PPM011279 PGS002052
(portability-ldpred2_433.1)
PSS009090|
European Ancestry|
4,046 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Occlusion and stenosis of precerebral arteries Partial Correlation (partial-r): 0.0001 [-0.0308, 0.031] sex, age, birth date, deprivation index, 16 PCs
PPM011280 PGS002052
(portability-ldpred2_433.1)
PSS008644|
European Ancestry|
6,521 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Occlusion and stenosis of precerebral arteries Partial Correlation (partial-r): 0.0191 [-0.0052, 0.0434] sex, age, birth date, deprivation index, 16 PCs
PPM011282 PGS002052
(portability-ldpred2_433.1)
PSS008198|
South Asian Ancestry|
6,173 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Occlusion and stenosis of precerebral arteries Partial Correlation (partial-r): 0.0003 [-0.0247, 0.0253] sex, age, birth date, deprivation index, 16 PCs
PPM011283 PGS002052
(portability-ldpred2_433.1)
PSS007980|
East Asian Ancestry|
1,789 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Occlusion and stenosis of precerebral arteries Partial Correlation (partial-r): -0.0132 [-0.0598, 0.0334] sex, age, birth date, deprivation index, 16 PCs
PPM011284 PGS002052
(portability-ldpred2_433.1)
PSS007763|
African Ancestry|
2,407 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Occlusion and stenosis of precerebral arteries Partial Correlation (partial-r): 0.0003 [-0.0398, 0.0404] sex, age, birth date, deprivation index, 16 PCs
PPM011285 PGS002052
(portability-ldpred2_433.1)
PSS008867|
African Ancestry|
3,806 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Occlusion and stenosis of precerebral arteries Partial Correlation (partial-r): 0.0054 [-0.0265, 0.0372] sex, age, birth date, deprivation index, 16 PCs
PPM011281 PGS002052
(portability-ldpred2_433.1)
PSS008418|
Greater Middle Eastern Ancestry|
1,183 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Occlusion and stenosis of precerebral arteries Partial Correlation (partial-r): -0.0093 [-0.0667, 0.0482] sex, age, birth date, deprivation index, 16 PCs
PPM011286 PGS002053
(portability-ldpred2_433)
PSS009315|
European Ancestry|
19,915 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Cerebrovascular disease Partial Correlation (partial-r): 0.0233 [0.0094, 0.0371] sex, age, birth date, deprivation index, 16 PCs
PPM011287 PGS002053
(portability-ldpred2_433)
PSS009089|
European Ancestry|
4,121 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Cerebrovascular disease Partial Correlation (partial-r): 0.0114 [-0.0193, 0.042] sex, age, birth date, deprivation index, 16 PCs
PPM011288 PGS002053
(portability-ldpred2_433)
PSS008643|
European Ancestry|
6,641 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Cerebrovascular disease Partial Correlation (partial-r): 0.0244 sex, age, birth date, deprivation index, 16 PCs
PPM011289 PGS002053
(portability-ldpred2_433)
PSS008417|
Greater Middle Eastern Ancestry|
1,198 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Cerebrovascular disease Partial Correlation (partial-r): 0.0536 [-0.0036, 0.1103] sex, age, birth date, deprivation index, 16 PCs
PPM011290 PGS002053
(portability-ldpred2_433)
PSS008197|
South Asian Ancestry|
6,308 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Cerebrovascular disease Partial Correlation (partial-r): 0.0165 [-0.0082, 0.0412] sex, age, birth date, deprivation index, 16 PCs
PPM011291 PGS002053
(portability-ldpred2_433)
PSS007979|
East Asian Ancestry|
1,804 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Cerebrovascular disease Partial Correlation (partial-r): 0.0131 [-0.0333, 0.0595] sex, age, birth date, deprivation index, 16 PCs
PPM011293 PGS002053
(portability-ldpred2_433)
PSS008866|
African Ancestry|
3,912 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Cerebrovascular disease Partial Correlation (partial-r): 0.0287 [-0.0027, 0.0601] sex, age, birth date, deprivation index, 16 PCs
PPM011292 PGS002053
(portability-ldpred2_433)
PSS007762|
African Ancestry|
2,470 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Cerebrovascular disease Partial Correlation (partial-r): 0.0139 [-0.0257, 0.0535] sex, age, birth date, deprivation index, 16 PCs
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
PPM014736 PGS002724
(GIGASTROKE_iPGS_EUR)
PSS009879|
European Ancestry|
403,489 individuals
PGP000333 |
Mishra A et al. Nature (2022)
Reported Trait: incident ischemic stroke cases HR: 1.19 [1.16, 1.21] C-index: 0.645 ∆C-index (improvement in C-index over covariates-only model): 0.01 age, sex, 5 PCs
PPM014738 PGS002724
(GIGASTROKE_iPGS_EUR)
PSS009876|
European Ancestry|
51,288 individuals
PGP000333 |
Mishra A et al. Nature (2022)
Reported Trait: incident ischemic stroke cases HR: 1.19 [1.11, 1.27] C-index: 0.644 ∆C-index (improvement in C-index over covariates-only model): 0.008 age, sex, 5 PCs
PPM014740 PGS002724
(GIGASTROKE_iPGS_EUR)
PSS009878|
African Ancestry|
107,343 individuals
PGP000333 |
Mishra A et al. Nature (2022)
Reported Trait: incident ischemic stroke cases HR: 1.11 [1.06, 1.17] C-index: 0.653 ∆C-index (improvement in C-index over covariates-only model): 0.003 age, sex, 5 PCs
PPM014742 PGS002724
(GIGASTROKE_iPGS_EUR)
PSS009880|
African Ancestry|
3,434 individuals
PGP000333 |
Mishra A et al. Nature (2022)
Reported Trait: prevalent ischemic stroke cases OR: 1.09 [1.02, 1.17] AUROC: 0.548 ∆AUROC (improvement in AUROC over covariates-only model): 0.007 age, sex, 5 PCs
PPM014745 PGS002724
(GIGASTROKE_iPGS_EUR)
PSS009875|
East Asian Ancestry|
41,929 individuals
PGP000333 |
Mishra A et al. Nature (2022)
Reported Trait: prevalent ischemic stroke cases OR: 1.18 [1.12, 1.25] AUROC: 0.643 ∆AUROC (improvement in AUROC over covariates-only model): 0.009 age, sex, 5 PCs
PPM014734 PGS002724
(GIGASTROKE_iPGS_EUR)
PSS009877|
European Ancestry|
102,099 individuals
PGP000333 |
Mishra A et al. Nature (2022)
Reported Trait: incident ischemic stroke cases HR: 1.26 [1.19, 1.34] C-index: 0.631 ∆C-index (improvement in C-index over covariates-only model): 0.027 age, sex, 5 PCs
PPM014747 PGS002725
(GIGASTROKE_iPGS_EAS)
PSS009881|
East Asian Ancestry|
87,682 individuals
PGP000333 |
Mishra A et al. Nature (2022)
Reported Trait: prevalent ischemic stroke cases OR: 1.18 [1.12, 1.25] AUROC: 0.765 ∆AUROC (improvement in AUROC over covariates-only model): 0.003 age, sex, 5 PCs
PPM014744 PGS002725
(GIGASTROKE_iPGS_EAS)
PSS009875|
East Asian Ancestry|
41,929 individuals
PGP000333 |
Mishra A et al. Nature (2022)
Reported Trait: prevalent ischemic stroke cases OR: 1.33 [1.26, 1.4] AUROC: 0.653 ∆AUROC (improvement in AUROC over covariates-only model): 0.019 age, sex, 5 PCs
PPM014970 PGS002770
(Stroke_prscs)
PSS009939|
European Ancestry|
39,444 individuals
PGP000364 |
Mars N et al. Am J Hum Genet (2022)
Reported Trait: Stroke OR: 1.15 [1.08, 1.22] age, sex, 10 PCs, technical covariates

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
PSS008644 6,521 individuals European Italy (South Europe) UKB
PSS007762 2,470 individuals African American or Afro-Caribbean Carribean UKB
PSS007763 2,407 individuals African American or Afro-Caribbean Carribean 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
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
PSS008417 1,198 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB
PSS008418 1,183 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB
PSS009315 19,915 individuals European UK (+ Ireland) UKB
PSS009316 19,445 individuals European UK (+ Ireland) UKB
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
PSS009641 A stroke event was defined as hospitalization due to stroke which was self-reported in a structured and standardized inter- view performed by certified and supervised personnel. 3,071 individuals,
49.0 % Male samples
Mean = 57.4 years
Sd = 12.9 years
European KORA
PSS007696
[
  • 70 cases
  • , 7,057 controls
]
European CanPath
PSS009875 Ischemic stroke
[
  • 1,470 cases
  • , 40,459 controls
]
East Asian
(Japanese)
BBJ % Male: 70.0% for cases and 53.1% for controls. Age information: Mean (cases) = 69.2 years, sd (cases) = 10.8; Mean (controls) = 66.5 years, sd (controls) = 12.5
PSS009876 Ischemic stroke
[
  • 960 cases
  • , 50,328 controls
]
European NR ClinicalTrials_EUR
PSS009877 Ischemic stroke Mean = 4.6 years
Sd = 4.8 years
[
  • 1,128 cases
  • , 100,971 controls
]
,
37.8 % Male samples
Mean = 44.0 years
Sd = 15.7 years
European
(Estonian)
EB
PSS009878 Ischemic stroke
[
  • 2,227 cases
  • , 105,116 controls
]
African American or Afro-Caribbean
(African American)
MVP
PSS009879 Ischemic stroke
[
  • 8,392 cases
  • , 395,097 controls
]
European
(European)
MVP
PSS009880 Ischemic stroke
[
  • 1,691 cases
  • , 1,743 controls
]
Sub-Saharan African
(Nigerian)
NR Stroke Investigative Research & Educational Network (SIREN)
PSS009881 Ischemic stroke
[
  • 1,399 cases
  • , 86,283 controls
]
East Asian
(Taiwanese)
Taiwan
PSS007705
[
  • 50 cases
  • , 8,040 controls
]
Asian unspecified Central and South Asian UKB
PSS009090 4,046 individuals European Poland (NE Europe) UKB
PSS008198 6,173 individuals South Asian India (South Asia) UKB
PSS009089 4,121 individuals European Poland (NE Europe) UKB
PSS008197 6,308 individuals South Asian India (South Asia) UKB
PSS004618
[
  • 12 cases
  • , 6,485 controls
]
African unspecified UKB
PSS004619
[
  • 36 cases
  • , 24,869 controls
]
European non-white British ancestry UKB
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
PSS004620
[
  • 16 cases
  • , 7,815 controls
]
South Asian UKB
PSS004621
[
  • 97 cases
  • , 67,328 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS007716
[
  • 1,650 cases
  • , 348,757 controls
]
European UKB
PSS008866 3,912 individuals African unspecified Nigeria (West Africa) UKB
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
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
PSS008867 3,806 individuals African unspecified Nigeria (West Africa) UKB
PSS009939 39,444 individuals European
(Finnish)
FinnGen
PSS007979 1,804 individuals East Asian China (East Asia) UKB
PSS007980 1,789 individuals East Asian China (East Asia) UKB
PSS010050 Participants without history of stroke, coronary heart disease, peripheral vascular disease, or congestive heart failure at recruitment 454,756 individuals Not reported UKB
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
PSS008643 6,641 individuals European Italy (South Europe) UKB