Trait: peripheral vascular disease

Experimental Factor Ontology (EFO) Information
Identifier EFO_0003875
Description Any disorder affecting blood flow through the veins or arteries outside of the heart. [NCIT: C35136]
Trait category
Cardiovascular disease
Synonyms 17 synonyms
  • Angiopathies, Peripheral
  • Angiopathy, Peripheral
  • DIS PERIPHERAL VASCULAR
  • Disease, Peripheral Vascular
  • Diseases, Peripheral Vascular
  • PERIPHERAL VASCULAR DIS
  • Peripheral Angiopathies
  • Peripheral Angiopathy
  • Peripheral Vascular Diseases
  • VASCULAR DIS PERIPHERAL
  • Vascular Disease, Peripheral
  • Vascular Diseases, Peripheral
  • arterial occlusive disease
  • disease, peripheral vascular
  • peripheral vascular disease
  • peripheral vascular disorder
  • vascular disease, peripheral
Mapped terms 13 mapped terms
  • DOID:341
  • ICD10:I73
  • ICD9:443.81
  • MEDGEN:38790
  • MESH:D016481
  • MESH:D016491
  • MONDO:0005294
  • MeSH:D016491
  • MedDRA:10034633
  • MedDRA:10034635
  • NCIT:C35136
  • SNOMEDCT:400047006
  • UMLS:C0085096
Child trait(s) peripheral arterial disease

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 "peripheral vascular disease" 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
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS001843
(portability-PLR_443.9)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Peripheral vascular disease, unspecified peripheral vascular disease 242
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001843/ScoringFiles/PGS001843.txt.gz
PGS002055
(portability-ldpred2_443.9)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Peripheral vascular disease, unspecified peripheral vascular disease 599,514
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002055/ScoringFiles/PGS002055.txt.gz
PGS005158
(PRS19_PAD)
 PGP000705 |
Zhu K et al. Diabetes Care (2024)
 Peripheral artery disease peripheral arterial disease 19
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005158/ScoringFiles/PGS005158.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
PPM009634 PGS001843
(portability-PLR_443.9)
 PSS009318|
European Ancestry|
19,668 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Peripheral vascular disease, unspecified — — Partial Correlation (partial-r): 0.0151 [0.0011, 0.029] sex, age, birth date, deprivation index, 16 PCs —
PPM009636 PGS001843
(portability-PLR_443.9)
 PSS008646|
European Ancestry|
6,566 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Peripheral vascular disease, unspecified — — Partial Correlation (partial-r): 0.0229 [-0.0013, 0.0471] sex, age, birth date, deprivation index, 16 PCs —
PPM009637 PGS001843
(portability-PLR_443.9)
 PSS008420|
Greater Middle Eastern Ancestry|
1,189 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Peripheral vascular disease, unspecified — — Partial Correlation (partial-r): -0.0194 [-0.0766, 0.038] sex, age, birth date, deprivation index, 16 PCs —
PPM009638 PGS001843
(portability-PLR_443.9)
 PSS008200|
South Asian Ancestry|
6,258 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Peripheral vascular disease, unspecified — — Partial Correlation (partial-r): 0.0011 [-0.0237, 0.0259] sex, age, birth date, deprivation index, 16 PCs —
PPM009640 PGS001843
(portability-PLR_443.9)
 PSS007765|
African Ancestry|
2,444 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Peripheral vascular disease, unspecified — — Partial Correlation (partial-r): -0.0417 [-0.0814, -0.0019] sex, age, birth date, deprivation index, 16 PCs —
PPM009641 PGS001843
(portability-PLR_443.9)
 PSS008869|
African Ancestry|
3,878 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Peripheral vascular disease, unspecified — — Partial Correlation (partial-r): 0.0129 [-0.0186, 0.0445] sex, age, birth date, deprivation index, 16 PCs —
PPM009635 PGS001843
(portability-PLR_443.9)
 PSS009092|
European Ancestry|
4,063 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Peripheral vascular disease, unspecified — — Partial Correlation (partial-r): 0.0365 [0.0057, 0.0672] sex, age, birth date, deprivation index, 16 PCs —
PPM009639 PGS001843
(portability-PLR_443.9)
 PSS007982|
East Asian Ancestry|
1,794 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Peripheral vascular disease, unspecified — — Partial Correlation (partial-r): -0.0031 [-0.0496, 0.0434] sex, age, birth date, deprivation index, 16 PCs —
PPM011302 PGS002055
(portability-ldpred2_443.9)
 PSS009318|
European Ancestry|
19,668 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Peripheral vascular disease, unspecified — — Partial Correlation (partial-r): 0.0175 [0.0035, 0.0315] sex, age, birth date, deprivation index, 16 PCs —
PPM011304 PGS002055
(portability-ldpred2_443.9)
 PSS008646|
European Ancestry|
6,566 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Peripheral vascular disease, unspecified — — Partial Correlation (partial-r): 0.0261 [0.0018, 0.0503] sex, age, birth date, deprivation index, 16 PCs —
PPM011305 PGS002055
(portability-ldpred2_443.9)
 PSS008420|
Greater Middle Eastern Ancestry|
1,189 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Peripheral vascular disease, unspecified — — Partial Correlation (partial-r): -0.0296 [-0.0868, 0.0278] sex, age, birth date, deprivation index, 16 PCs —
PPM011306 PGS002055
(portability-ldpred2_443.9)
 PSS008200|
South Asian Ancestry|
6,258 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Peripheral vascular disease, unspecified — — Partial Correlation (partial-r): 0.0061 [-0.0187, 0.0309] sex, age, birth date, deprivation index, 16 PCs —
PPM011307 PGS002055
(portability-ldpred2_443.9)
 PSS007982|
East Asian Ancestry|
1,794 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Peripheral vascular disease, unspecified — — Partial Correlation (partial-r): -0.0276 [-0.074, 0.019] sex, age, birth date, deprivation index, 16 PCs —
PPM011308 PGS002055
(portability-ldpred2_443.9)
 PSS007765|
African Ancestry|
2,444 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Peripheral vascular disease, unspecified — — Partial Correlation (partial-r): -0.0324 [-0.0721, 0.0074] sex, age, birth date, deprivation index, 16 PCs —
PPM011309 PGS002055
(portability-ldpred2_443.9)
 PSS008869|
African Ancestry|
3,878 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Peripheral vascular disease, unspecified — — Partial Correlation (partial-r): 0.0345 [0.003, 0.066] sex, age, birth date, deprivation index, 16 PCs —
PPM011303 PGS002055
(portability-ldpred2_443.9)
 PSS009092|
European Ancestry|
4,063 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Peripheral vascular disease, unspecified — — Partial Correlation (partial-r): 0.011 [-0.0198, 0.0418] sex, age, birth date, deprivation index, 16 PCs —
PPM022379 PGS005158
(PRS19_PAD)
 PSS011930|
European Ancestry|
10,836 individuals
 PGP000705 |
Zhu K et al. Diabetes Care (2024)
 Reported Trait: Peripheral artery disease in type 2 diabetes x lifestyle interaction — — Hazard ratio (HR, unfavorable lifestyle and high PRS vs. favorable life style and low PRS): 5.03 [2.74, 9.22] age (continuous, years), sex (male, female), education attainment (college or university degree, A/AS levels or equivalent or O levels/ GCSEs or equivalent or other professional qualifications, or none of the above), Townsend Deprivation Index (continuous), family history of CVD (yes, no), prevalence of hypertension (yes, no), use of antihypertensive medication (yes, no), use of lipid-lowing medication (yes, no), aspirin use (yes, no), diabetes duration (continuous, years), HbA1c (continuous, %), use of diabetes medication (none, only oral medication pills, only insulin, or combination of oral medications and insulin), genotype measurement batch, and the first 10 principal components of ancestry fig 1
PPM022378 PGS005158
(PRS19_PAD)
 PSS011930|
European Ancestry|
10,836 individuals
 PGP000705 |
Zhu K et al. Diabetes Care (2024)
 Reported Trait: Peripheral artery disease in type 2 diabetes HR: 1.13 [1.03, 1.23] — — age (continuous, years), sex (male, female), Townsend Deprivation Index (continuous), race/ethnicity (White, others), education attainment (college or university degree, A/AS levels or equivalent or O levels/GCSEs or equivalent or other professional qualifications, or none of the above), family history of CVD (yes, no), prevalence of hypertension (yes, no), use of antihypertensive medication (yes, no), use of lipidlowing medication (yes, no), use of aspirin (yes, no), diabetes duration (continuous, years), HbA1c (continuous, %), use of diabetes medication (none, only oral medication pills, or only insulin or combination of oral medications and insulin), genotype measurement batch, the first 10 principal components of ancestry, weighted healthy lifestyle scores (continuous) ST3

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
PSS008420 — — 1,189 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS008869 — — 3,878 individuals — African unspecified Nigeria (West Africa) UKB —
PSS009318 — — 19,668 individuals — European UK (+ Ireland) UKB —
PSS008646 — — 6,566 individuals — European Italy (South Europe) UKB —
PSS008200 — — 6,258 individuals — South Asian India (South Asia) UKB —
PSS009092 — — 4,063 individuals — European Poland (NE Europe) UKB —
PSS007982 — — 1,794 individuals — East Asian China (East Asia) UKB —
PSS007765 — — 2,444 individuals — African American or Afro-Caribbean Carribean UKB —
PSS011930 — — 10,836 individuals — European
(British)		 — UKB —