Trait: brain aneurysm

Experimental Factor Ontology (EFO) Information
Identifier EFO_0003870
Description A congenital or acquired aneurysm within the cranium. [NCIT: P378]
Trait categories
Cardiovascular disease
Neurological disorder
Synonyms 45 synonyms
  • Aneurysm, Anterior Cerebral Artery
  • Aneurysm, Anterior Communicating Artery
  • Aneurysm, Basilar Artery
  • Aneurysm, Berry
  • Aneurysm, Brain
  • Aneurysm, Cerebral
  • Aneurysm, Giant Intracranial
  • Aneurysm, Intracranial
  • Aneurysm, Intracranial Mycotic
  • Aneurysm, Middle Cerebral Artery
  • Aneurysm, Posterior Cerebral Artery
  • Aneurysm, Posterior Communicating Artery
  • Aneurysms, Basilar Artery
  • Aneurysms, Berry
  • Aneurysms, Brain
  • Aneurysms, Cerebral
  • Aneurysms, Giant Intracranial
  • Aneurysms, Intracranial
  • Aneurysms, Intracranial Mycotic
  • Anterior Cerebral Artery Aneurysm
  • Anterior Communicating Artery Aneurysm
  • Artery Aneurysm, Basilar
  • Artery Aneurysms, Basilar
  • Basilar Artery Aneurysm
  • Basilar Artery Aneurysms
  • Berry Aneurysm
  • Berry Aneurysms
  • Brain Aneurysms
  • Cerebral Aneurysm
  • Cerebral Aneurysms
  • Giant Intracranial Aneurysm
  • Giant Intracranial Aneurysms
  • Intracranial Aneurysm
  • Intracranial Aneurysm, Giant
  • Intracranial Aneurysms
  • Intracranial Aneurysms, Giant
  • Intracranial Mycotic Aneurysm
  • Intracranial Mycotic Aneurysms
  • Middle Cerebral Artery Aneurysm
  • Mycotic Aneurysm, Intracranial
  • Mycotic Aneurysms, Intracranial
  • Posterior Cerebral Artery Aneurysm
  • Posterior Communicating Artery Aneurysm
  • brain aneurysm
  • intracranial aneurysm
Mapped terms 10 mapped terms
  • DOID:10941
  • MEDGEN:196706
  • MESH:D002532
  • MONDO:0005291
  • MeSH:D002532
  • NCIt:C27208
  • SNOMEDCT:125236003
  • SNOMEDCT:128609009
  • SNOMEDCT:277196008
  • UMLS:C0751003

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
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS003406
(1_withUKB_sexAll_metaGRS.weights)
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Intracranial aneurysm brain aneurysm 6,852,195
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003406/ScoringFiles/PGS003406.txt.gz
PGS003407
(2_withUKB_sexMale_metaGRS.weights)
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Intracranial aneurysm brain aneurysm,
male		 6,618,190
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003407/ScoringFiles/PGS003407.txt.gz
PGS003408
(3_withUKB_sexFemale_metaGRS.weights)
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Intracranial aneurysm brain aneurysm,
female		 6,671,269
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003408/ScoringFiles/PGS003408.txt.gz
PGS003409
(4_withUKB_sexAll_IAonly.weights)
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Intracranial aneurysm brain aneurysm 6,852,195
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003409/ScoringFiles/PGS003409.txt.gz
PGS003410
(5_withUKB_sexMale_IAonly.weights)
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Intracranial aneurysm brain aneurysm,
male		 6,618,190
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003410/ScoringFiles/PGS003410.txt.gz
PGS003411
(6_withUKB_sexFemale_IAonly.weights)
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Intracranial aneurysm brain aneurysm,
female		 6,671,269
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003411/ScoringFiles/PGS003411.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
PPM017048 PGS003406
(1_withUKB_sexAll_metaGRS.weights)
 PSS010105|
European Ancestry|
69,396 individuals
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Reported Trait: Aneurysmal subarachnoid hemorrhage hazard HR: 1.344 C-index: 0.652 — sex, systolic blood pressure, cigarette packs per day —
PPM017054 PGS003406
(1_withUKB_sexAll_metaGRS.weights)
 PSS010105|
European Ancestry|
69,396 individuals
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Reported Trait: Intracranial aneurysm cases OR: 1.094 C-index: 0.763 — — —
PPM017049 PGS003407
(2_withUKB_sexMale_metaGRS.weights)
 PSS010105|
European Ancestry|
69,396 individuals
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Reported Trait: Aneurysmal subarachnoid hemorrhage hazard (men only) HR: 1.254 C-index: 0.571 — sex, systolic blood pressure, cigarette packs per day —
PPM017055 PGS003407
(2_withUKB_sexMale_metaGRS.weights)
 PSS010105|
European Ancestry|
69,396 individuals
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Reported Trait: Intracranial aneurysm cases (men only) OR: 1.091 C-index: 0.762 — — —
PPM017050 PGS003408
(3_withUKB_sexFemale_metaGRS.weights)
 PSS010105|
European Ancestry|
69,396 individuals
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Reported Trait: Aneurysmal subarachnoid hemorrhage hazard (women only) HR: 1.374 C-index: 0.727 — sex, systolic blood pressure, cigarette packs per day —
PPM017056 PGS003408
(3_withUKB_sexFemale_metaGRS.weights)
 PSS010105|
European Ancestry|
69,396 individuals
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Reported Trait: Intracranial aneurysm cases (women only) OR: 1.089 C-index: 0.77 — — —
PPM017051 PGS003409
(4_withUKB_sexAll_IAonly.weights)
 PSS010105|
European Ancestry|
69,396 individuals
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Reported Trait: Aneurysmal subarachnoid hemorrhage hazard HR: 1.254 C-index: 0.65 — sex, systolic blood pressure, cigarette packs per day —
PPM017057 PGS003409
(4_withUKB_sexAll_IAonly.weights)
 PSS010105|
European Ancestry|
69,396 individuals
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Reported Trait: Intracranial aneurysm cases OR: 1.124 C-index: 0.764 — — —
PPM017052 PGS003410
(5_withUKB_sexMale_IAonly.weights)
 PSS010105|
European Ancestry|
69,396 individuals
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Reported Trait: Aneurysmal subarachnoid hemorrhage hazard (men only) HR: 1.199 C-index: 0.593 — sex, systolic blood pressure, cigarette packs per day —
PPM017058 PGS003410
(5_withUKB_sexMale_IAonly.weights)
 PSS010105|
European Ancestry|
69,396 individuals
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Reported Trait: Intracranial aneurysm cases (men only) OR: 1.165 C-index: 0.763 — — —
PPM017053 PGS003411
(6_withUKB_sexFemale_IAonly.weights)
 PSS010105|
European Ancestry|
69,396 individuals
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Reported Trait: Aneurysmal subarachnoid hemorrhage hazard (women only) HR: 1.295 C-index: 0.722 — sex, systolic blood pressure, cigarette packs per day —
PPM017059 PGS003411
(6_withUKB_sexFemale_IAonly.weights)
 PSS010105|
European Ancestry|
69,396 individuals
 PGP000423 |
Bakker MK et al. Stroke (2023)
 Reported Trait: Intracranial aneurysm cases (women only) OR: 1.085 C-index: 0.77 — — —

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
PSS010105 ICD codes I67.1 and I60 —
[
  • 828 cases
  • , 68,568 controls
]
 — European
(Norwegian)		 — HUNT2 —