Trait: aortic measurement

Experimental Factor Ontology (EFO) Information
Identifier EFO_0020865
Description Measurement of some parts of the aorta, including ascending aorta distensibility and area.
Trait category
Cardiovascular measurement
Synonym aortic diagnostic technique

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)
PGS002236
(PRS_AsAoD)
 PGP000268 |
Tcheandjieu C et al. Nat Genet (2022)
 Ascending aorta diameter (MRI-derived) aortic measurement 92,299
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002236/ScoringFiles/PGS002236.txt.gz
PGS002267
(PRS89_AA)
 PGP000296 |
Pirruccello JP et al. Nat Genet (2021)
 Ascending thoracic aortic diameter cardiovascular disease biomarker measurement,
aortic measurement		 89
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002267/ScoringFiles/PGS002267.txt.gz
PGS004927
(score_resint_max_aa_shortaxis_cm)
 PGP000663 |
Pirruccello JP et al. Eur Heart J (2024)
 Ascending aortic diameter aortic measurement 1,111,632
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004927/ScoringFiles/PGS004927.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
PPM012713 PGS002236
(PRS_AsAoD)
 PSS009501|
European Ancestry|
11,573 individuals
 PGP000268 |
Tcheandjieu C et al. Nat Genet (2022)
 Reported Trait: Ascending aortic diameter in males β: 0.69 — — age, sex, BSA, top five principal components beta unit is mm
PPM012716 PGS002236
(PRS_AsAoD)
 PSS009503|
European Ancestry|
523,178 individuals
 PGP000268 |
Tcheandjieu C et al. Nat Genet (2022)
 Reported Trait: Prevalent thoracic aortic aneurysm OR: 1.37 [1.31, 1.43] — — — —
PPM012717 PGS002236
(PRS_AsAoD)
 PSS009504|
Hispanic or Latin American Ancestry|
32,336 individuals
 PGP000268 |
Tcheandjieu C et al. Nat Genet (2022)
 Reported Trait: Prevalent thoracic aortic aneurysm OR: 1.4 [1.16, 1.69] — — — —
PPM012712 PGS002236
(PRS_AsAoD)
 PSS009501|
European Ancestry|
11,573 individuals
 PGP000268 |
Tcheandjieu C et al. Nat Genet (2022)
 Reported Trait: Ascending aortic diameter β: 0.64 — — age, sex, BSA, top five principal components beta unit is mm
PPM012715 PGS002236
(PRS_AsAoD)
 PSS009505|
European Ancestry|
314,560 individuals
 PGP000268 |
Tcheandjieu C et al. Nat Genet (2022)
 Reported Trait: Prevalent thoracic aortic aneurysm OR: 1.5 — — body surface area (BSA), sex, top 10 principal components beta unit is mm
PPM012721 PGS002236
(PRS_AsAoD)
 PSS009505|
European Ancestry|
314,560 individuals
 PGP000268 |
Tcheandjieu C et al. Nat Genet (2022)
 Reported Trait: Surgical intervention (aorta) HR: 1.42 — — sex, age at recruitment, smoking, SBP, DBP —
PPM012714 PGS002236
(PRS_AsAoD)
 PSS009501|
European Ancestry|
11,573 individuals
 PGP000268 |
Tcheandjieu C et al. Nat Genet (2022)
 Reported Trait: Ascending aortic diameter in females β: 0.59 — — age, sex, BSA, top five principal components beta unit is mm
PPM012718 PGS002236
(PRS_AsAoD)
 PSS009502|
African Ancestry|
86,880 individuals
 PGP000268 |
Tcheandjieu C et al. Nat Genet (2022)
 Reported Trait: Prevalent thoracic aortic aneurysm OR: 1.08 [1.0, 1.18] — — — —
PPM012719 PGS002236
(PRS_AsAoD)
 PSS009503|
European Ancestry|
523,178 individuals
 PGP000268 |
Tcheandjieu C et al. Nat Genet (2022)
 Reported Trait: Surgical intervention in thoracic aneurysm OR: 1.57 [1.15, 2.15] — — — —
PPM012720 PGS002236
(PRS_AsAoD)
 PSS009505|
European Ancestry|
314,560 individuals
 PGP000268 |
Tcheandjieu C et al. Nat Genet (2022)
 Reported Trait: Surgical intervention (aorta) OR: 1.44 — — — —
PPM012908 PGS002267
(PRS89_AA)
 PSS009608|
European Ancestry|
385,621 individuals
 PGP000296 |
Pirruccello JP et al. Nat Genet (2021)
 Reported Trait: Incident thoracic aortic aneurysm or dissection HR: 1.43 [1.32, 1.54] — — Sex, prevalent diagnoses of type 2 diabetes or hypertension, tobacco smoking history (the number of pack years of tobacco smoking), body mass (the cubic natural spline of body mass index) and age (the cubic natural spline of age at enrollment). —
PPM021713 PGS004927
(score_resint_max_aa_shortaxis_cm)
 PSS011759|
European Ancestry|
4,394 individuals
 PGP000663 |
Pirruccello JP et al. Eur Heart J (2024)
 Reported Trait: Ascending aortic diameter — — R²: 0.39499
Beta (combined score): 0.965 [0.93, 1.0]		 Clinical covariates (age, age^2, sex, height, weight, BMI, heart rate, systolic blood pressure, diastolic blood pressure, and a history of hypertension, diabetes, and hyperlipidemia) Linear regression of combined score (PGS + clinical covariates)
PPM021712 PGS004927
(score_resint_max_aa_shortaxis_cm)
 PSS011759|
European Ancestry|
4,394 individuals
 PGP000663 |
Pirruccello JP et al. Eur Heart J (2024)
 Reported Trait: Ascending aortic diameter β: 1.062 [0.981, 1.144] — R²: 0.12862 — Linear regression

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
PSS009501 International Classification of Disease 9 and 10 (ICD-9 codes: 441.1, 441.2, 441.01 and ICD-10 codes: I71.01, I71.1, I71.2); Office of Population and Censuses Surveys (OPCS-4 codes: K33.*, L18.2, L19.2, L20.2, L21.2, L22.1, L27.3, L28.3); and Current Procedural Terminology (CPT: 2107426-2107627, 2211645-2211647, 42740410-42740416, 42740439, 45887730-45890065). For survival modeling of thoracic aortic aneurysm in the UKB individuals with congenital anomalies of the outflow tracts (ICD-10 Q25), syndromic disease involving the aorta (ICD-10 Q87*, Q96, Q93.82), or traumatic injury to the heart or aorta (ICD-10 S25.0) were excluded. — 11,573 individuals — European — UKB —
PSS009502 International Classification of Disease 9 and 10 (ICD-9 codes: 441.1, 441.2, 441.01 and ICD-10 codes: I71.01, I71.1, I71.2); Office of Population and Censuses Surveys (OPCS-4 codes: K33.*, L18.2, L19.2, L20.2, L21.2, L22.1, L27.3, L28.3); and Current Procedural Terminology (CPT: 2107426-2107627, 2211645-2211647, 42740410-42740416, 42740439, 45887730-45890065). For survival modeling of thoracic aortic aneurysm in the UKB individuals with congenital anomalies of the outflow tracts (ICD-10 Q25), syndromic disease involving the aorta (ICD-10 Q87*, Q96, Q93.82), or traumatic injury to the heart or aorta (ICD-10 S25.0) were excluded. —
[
  • 559 cases
  • , 86,321 controls
]
 — African American or Afro-Caribbean
(African American)		 — MVP, PMB —
PSS009503 International Classification of Disease 9 and 10 (ICD-9 codes: 441.1, 441.2, 441.01 and ICD-10 codes: I71.01, I71.1, I71.2); Office of Population and Censuses Surveys (OPCS-4 codes: K33.*, L18.2, L19.2, L20.2, L21.2, L22.1, L27.3, L28.3); and Current Procedural Terminology (CPT: 2107426-2107627, 2211645-2211647, 42740410-42740416, 42740439, 45887730-45890065). For survival modeling of thoracic aortic aneurysm in the UKB individuals with congenital anomalies of the outflow tracts (ICD-10 Q25), syndromic disease involving the aorta (ICD-10 Q87*, Q96, Q93.82), or traumatic injury to the heart or aorta (ICD-10 S25.0) were excluded. —
[
  • 6,029 cases
  • , 517,149 controls
]
 — European — FinnGen, MVP, PMB, UKB —
PSS009504 International Classification of Disease 9 and 10 (ICD-9 codes: 441.1, 441.2, 441.01 and ICD-10 codes: I71.01, I71.1, I71.2); Office of Population and Censuses Surveys (OPCS-4 codes: K33.*, L18.2, L19.2, L20.2, L21.2, L22.1, L27.3, L28.3); and Current Procedural Terminology (CPT: 2107426-2107627, 2211645-2211647, 42740410-42740416, 42740439, 45887730-45890065). For survival modeling of thoracic aortic aneurysm in the UKB individuals with congenital anomalies of the outflow tracts (ICD-10 Q25), syndromic disease involving the aorta (ICD-10 Q87*, Q96, Q93.82), or traumatic injury to the heart or aorta (ICD-10 S25.0) were excluded. —
[
  • 117 cases
  • , 32,219 controls
]
 — Hispanic or Latin American
(Hispanic American)		 — MVP —
PSS009505 International Classification of Disease 9 and 10 (ICD-9 codes: 441.1, 441.2, 441.01 and ICD-10 codes: I71.01, I71.1, I71.2); Office of Population and Censuses Surveys (OPCS-4 codes: K33.*, L18.2, L19.2, L20.2, L21.2, L22.1, L27.3, L28.3); and Current Procedural Terminology (CPT: 2107426-2107627, 2211645-2211647, 42740410-42740416, 42740439, 45887730-45890065). For survival modeling of thoracic aortic aneurysm in the UKB individuals with congenital anomalies of the outflow tracts (ICD-10 Q25), syndromic disease involving the aorta (ICD-10 Q87*, Q96, Q93.82), or traumatic injury to the heart or aorta (ICD-10 S25.0) were excluded. — 314,560 individuals — European — UKB —
PSS011759 — — 4,394 individuals,
48.0 % Male samples
 Mean = 65.0 years European — UKB UK Biobank imaging participants, validation set
PSS009608 — Median = 11.2 yrs
[
  • 685 cases
  • , 384,936 controls
]
 — European
(British, Irish)		 — UKB —