Trait: essential hypertension

Trait Information
Identifier MONDO_0001134
Description Hypertension that presents without an identifiable cause. [NCIT: P378]
Trait category
Cardiovascular disease
Synonyms 2 synonyms
  • idiopathic hypertension
  • primary hypertension
Mapped terms 8 mapped terms
  • DOID:10825
  • EFO:1002032
  • ICD9:401
  • ICD9:401.9
  • MESH:D000075222
  • Orphanet:243761
  • SCTID:59621000
  • UMLS:C0085580

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)
PGS000957
(GBE_HC932)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Essential (primary hypertension) (time-to-event) essential hypertension 11,276
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000957/ScoringFiles/PGS000957.txt.gz
PGS000958
(GBE_HC273)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Essential hypertension essential hypertension 9,400
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000958/ScoringFiles/PGS000958.txt.gz
PGS004456
(disease.I10.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 I10 (Essential (primary) hypertension) essential hypertension 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004456/ScoringFiles/PGS004456.txt.gz
PGS004526
(meta.I10.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 I10 (Essential (primary) hypertension) essential hypertension 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004526/ScoringFiles/PGS004526.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
PPM007609 PGS000957
(GBE_HC932)
 PSS004711|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE essential (primary hypertension) — AUROC: 0.71865 [0.70527, 0.73203] R²: 0.17042
Incremental AUROC (full-covars): -0.00133
PGS R2 (no covariates): 0.00389
PGS AUROC (no covariates): 0.53092 [0.51597, 0.54587]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007610 PGS000957
(GBE_HC932)
 PSS004712|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE essential (primary hypertension) — AUROC: 0.7519 [0.72118, 0.78262] R²: 0.18828
Incremental AUROC (full-covars): 0.01726
PGS R2 (no covariates): 0.02831
PGS AUROC (no covariates): 0.59059 [0.55566, 0.62552]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007611 PGS000957
(GBE_HC932)
 PSS004713|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE essential (primary hypertension) — AUROC: 0.74724 [0.74015, 0.75433] R²: 0.19436
Incremental AUROC (full-covars): 0.02015
PGS R2 (no covariates): 0.03223
PGS AUROC (no covariates): 0.60027 [0.59183, 0.6087]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007612 PGS000957
(GBE_HC932)
 PSS004714|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE essential (primary hypertension) — AUROC: 0.73072 [0.71892, 0.74253] R²: 0.19598
Incremental AUROC (full-covars): 0.00857
PGS R2 (no covariates): 0.01913
PGS AUROC (no covariates): 0.56924 [0.55569, 0.58279]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007613 PGS000957
(GBE_HC932)
 PSS004715|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE essential (primary hypertension) — AUROC: 0.72352 [0.71925, 0.72779] R²: 0.16706
Incremental AUROC (full-covars): 0.02959
PGS R2 (no covariates): 0.04055
PGS AUROC (no covariates): 0.60837 [0.60349, 0.61326]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007614 PGS000958
(GBE_HC273)
 PSS004403|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Essential hypertension — AUROC: 0.72155 [0.708, 0.7351] R²: 0.17503
Incremental AUROC (full-covars): -0.00192
PGS R2 (no covariates): 0.00286
PGS AUROC (no covariates): 0.52821 [0.51311, 0.54331]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007615 PGS000958
(GBE_HC273)
 PSS004404|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Essential hypertension — AUROC: 0.74478 [0.71204, 0.77751] R²: 0.16987
Incremental AUROC (full-covars): 0.01358
PGS R2 (no covariates): 0.01557
PGS AUROC (no covariates): 0.56972 [0.5318, 0.60763]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007616 PGS000958
(GBE_HC273)
 PSS004405|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Essential hypertension — AUROC: 0.74583 [0.73846, 0.75319] R²: 0.1847
Incremental AUROC (full-covars): 0.01683
PGS R2 (no covariates): 0.02709
PGS AUROC (no covariates): 0.59474 [0.58596, 0.60351]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007617 PGS000958
(GBE_HC273)
 PSS004406|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Essential hypertension — AUROC: 0.73161 [0.71966, 0.74357] R²: 0.19538
Incremental AUROC (full-covars): 0.00693
PGS R2 (no covariates): 0.01804
PGS AUROC (no covariates): 0.56789 [0.55414, 0.58165]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007618 PGS000958
(GBE_HC273)
 PSS004407|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Essential hypertension — AUROC: 0.72364 [0.71923, 0.72805] R²: 0.16114
Incremental AUROC (full-covars): 0.02564
PGS R2 (no covariates): 0.03436
PGS AUROC (no covariates): 0.60148 [0.5964, 0.60656]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM020571 PGS004456
(disease.I10.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: I10 (Essential (primary) hypertension) OR: 1.47509 — — — —
PPM020641 PGS004526
(meta.I10.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: I10 (Essential (primary) hypertension) OR: 1.54547 — — — —

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
PSS011364 — — 56,192 individuals — European — UKB —
PSS004711 — —
[
  • 2,034 cases
  • , 4,463 controls
]
 — African unspecified — UKB —
PSS004712 — —
[
  • 298 cases
  • , 1,406 controls
]
 — East Asian — UKB —
PSS004713 — —
[
  • 5,400 cases
  • , 19,505 controls
]
 — European non-white British ancestry UKB —
PSS004714 — —
[
  • 2,513 cases
  • , 5,318 controls
]
 — South Asian — UKB —
PSS004715 — —
[
  • 16,689 cases
  • , 50,736 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS004403 — —
[
  • 1,956 cases
  • , 4,541 controls
]
 — African unspecified — UKB —
PSS004404 — —
[
  • 259 cases
  • , 1,445 controls
]
 — East Asian — UKB —
PSS004405 — —
[
  • 4,864 cases
  • , 20,041 controls
]
 — European non-white British ancestry UKB —
PSS004406 — —
[
  • 2,406 cases
  • , 5,425 controls
]
 — South Asian — UKB —
PSS004407 — —
[
  • 15,118 cases
  • , 52,307 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)