Polygenic Score (PGS) ID: PGS002236

Predicted Trait
Reported Trait Ascending aorta diameter (MRI-derived)
Mapped Trait(s) aortic measurement (EFO_0020865)
Released in PGS Catalog: June 29, 2022
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Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name PRS_AsAoD
Development Method
Name Pruning and Thresholding (P+T)
Parameters PT using R^2<0.8, pvalue <0.01
Variants
Original Genome Build GRCh37
Number of Variants 92,299
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000268
Citation (link to publication) Tcheandjieu C et al. Nat Genet (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
20,642 individuals (100%)
PGS Evaluation
European: 60%
African: 20%
Hispanic or Latin American: 20%
5 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
— 20,642 individuals European UKB

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) 		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 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 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 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 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 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 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 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 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 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 PSS009505|
European Ancestry|
314,560 individuals
 PGP000268 |
Tcheandjieu C et al. Nat Genet (2022)
 Reported Trait: Surgical intervention (aorta) OR: 1.44 — — — —

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 —