Trait: hypertension

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000537
Description Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more. [MESH: D006973]
Trait category
Cardiovascular disease
Synonyms 25 synonyms
  • (hypertensive disease) or (hypertension)
  • Blood Pressure, High
  • Blood Pressures, High
  • HTN
  • HTN - hypertension
  • High Blood Pressure
  • High Blood Pressures
  • High blood pressure (& [essential hypertension])
  • Hypertensive disease (disorder)
  • Hypertensive disease NOS (disorder)
  • [X]Hypertensive diseases
  • [X]Hypertensive diseases (disorder)
  • blood pressure, high
  • blood pressure, increased
  • high blood pressure
  • hyperpiesia
  • hypertension NOS
  • hypertensive disease
  • hypertensive disease NOS
  • hypertensive disorder
  • increased blood pressure
  • pressure, high blood
  • vascular hypertensive disorder
Mapped term(s) 17 mapped terms
  • DOID:10763
  • HP:0000822
  • ICD10:I10
  • ICD10:I10-I15
  • ICD10:I15
  • ICD10:O10
  • ICD10:O11
  • ICD9:401-405.99
  • ICD9:997.91
  • MESH:D006973
  • MONDO:0005044
  • MSH:D006973
  • NCIT:C3117
  • NCIt:C3117
  • OMIM:145500
  • SCTID:38341003
  • UMLS:C0020538
Child trait(s) pulmonary arterial hypertension

Associated Polygenic Score(s)

Note: This table shows all PGS for "hypertension" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000706 HC215 PGP000128 Sinnott-Armstrong N et al. Nat Genet (2021) Hypertension hypertension 186,726 - Check Terms/Licenses
PGS000713 T2D PGP000128 Sinnott-Armstrong N et al. Nat Genet (2021) T2D pulmonary arterial hypertension 183,830 - Check Terms/Licenses

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
PPM001615 PGS000713
PSS000756 PGP000128 Sinnott-Armstrong N et al. (2021) Reported Trait: Type 2 diabetes HR: 1.49 [1.47, 1.51] C-index: 0.669 Age as time scale, sex, batch, PCs(1-10)
PPM001605 PGS000713
PSS000754 PGP000128 Sinnott-Armstrong N et al. (2021) Reported Trait: Type 2 diabetes AUROC: 0.688 Age, sex, PCs(1-10)
PPM001598 PGS000706
PSS000822 PGP000128 Sinnott-Armstrong N et al. (2021) Reported Trait: Hypertension AUROC: 0.623 Age, sex, PCs(1-10)

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
PSS000754 87,413 individuals European UKB
PSS000756 ICD-10 E11.0 - E11.9
  • 17,519 cases
  • , 117,781 controls
PSS000822 87,413 individuals European UKB