Polygenic Score (PGS) ID: PGS000753

Predicted Trait
Reported Trait Abdominal aortic aneurysm
Mapped Trait(s) Abdominal Aortic Aneurysm (EFO_0004214)
Released in PGS Catalog: April 7, 2021
Download Score FTP directory
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 PRS29_AAA
Development Method
Name Pruning and Thresholding (P+T)
Parameters R^2 < 0.0001, p < 1e-6; LD panel = 20000 UKB Europeans
Variants
Original Genome Build GRCh37
Number of Variants 29
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000159
Citation (link to publication) Klarin D et al. Circulation (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
179,814 individuals (100%)
Score Development/Training
European: 100%
8,772 individuals (100%)
PGS Evaluation
European: 75%
African: 25%
4 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
Europe PMC: 32981348
[
  • 7,642 cases
  • , 172,172 controls
]
,
92.68 % Male samples
 European MVP
Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
—
[
  • 1,022 cases
  • , 7,750 controls
]
,
61.51 % Male samples
 European MAYO-VDB Abdominal aortic aneurysm (AAA) cases were defined as having an infrarenal abdominal aortic diameter ≥3 cm or a history of open or endovascular AAA repair. Controls were not known to have AAA and had no ICD-9 diagnosis codes for AAA. — — — —

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
PPM001912 PSS000958|
European Ancestry|
46,564 individuals
 PGP000159 |
Klarin D et al. Circulation (2020)
 Reported Trait: Prevalent abdominal aortic aneurysm OR: 1.37 [1.3, 1.44] — — Age, sex, PCs (1-5) —
PPM001913 PSS000956|
African Ancestry|
47,098 individuals
 PGP000159 |
Klarin D et al. Circulation (2020)
 Reported Trait: Prevalent abdominal aortic aneurysm OR: 1.15 [1.07, 1.24] — — Age, sex, PCs (1-5) —
PPM001915 PSS000959|
European Ancestry|
10,231 individuals
 PGP000159 |
Klarin D et al. Circulation (2020)
 Reported Trait: Prevalent abdominal aortic aneurysm OR: 1.31 [1.18, 1.46] — — Age, sex, PCs (1-5) —
PPM001917 PSS000956|
African Ancestry|
47,098 individuals
 PGP000159 |
Klarin D et al. Circulation (2020)
 Reported Trait: Prevalent abdominal aortic aneurysm OR: 1.13 [1.04, 1.22] — — Age, sex, PCs (1-5), smoking, hypertension, low-density lipoprotein cholesterol with statin adjustment, high-density lipoprotein cholesterol, triglycerides, coronary artery disease as a marker of atherosclerosis burden. —
PPM001918 PSS000957|
European Ancestry|
9,525 individuals
 PGP000159 |
Klarin D et al. Circulation (2020)
 Reported Trait: Prevalent abdominal aortic aneurysm OR: 1.58 [1.25, 1.98] — — Age, sex, PCs (1-5), smoking, hypertension, low-density lipoprotein cholesterol with statin adjustment, high-density lipoprotein cholesterol, triglycerides, coronary artery disease as a marker of atherosclerosis burden. —
PPM001914 PSS000957|
European Ancestry|
9,525 individuals
 PGP000159 |
Klarin D et al. Circulation (2020)
 Reported Trait: Prevalent abdominal aortic aneurysm OR: 2.46 [1.46, 4.14] — — Age, sex, PCs (1-5) —
PPM001916 PSS000958|
European Ancestry|
46,564 individuals
 PGP000159 |
Klarin D et al. Circulation (2020)
 Reported Trait: Prevalent abdominal aortic aneurysm OR: 1.34 [1.27, 1.41] — — Age, sex, PCs (1-5), smoking, hypertension, low-density lipoprotein cholesterol with statin adjustment, high-density lipoprotein cholesterol, triglycerides, coronary artery disease as a marker of atherosclerosis burden. —

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
PSS000958 Abdominal aortic aneurysm cases were defined as the presence of 2 instances of any of the following International Classification of Diseases (ICD)–9 or ICD-10 codes in a participant’s EHR: 441.3, 441.4, I71.3, or I71.4. Controls were defined as possessing no occurrences of the aforementioned ICD codes, as well as no occurrences of the ICD-9 codes 440 through 448 or ICD-10 codes I71 through I75, I77 through I79, or K55. —
[
  • 1,656 cases
  • , 44,908 controls
]
,
92.1 % Male samples
 Mean = 63.8 years
Sd = 13.7 years		 European — MVP Sample is independent to the MVP sample used to identify SNPs and determine their weights
PSS000959 Abdominal aortic aneurysm cases were defined as the presence of 2 instances of any of the following International Classification of Diseases (ICD)–9 or ICD-10 codes in a participant’s EHR: 441.3, 441.4, I71.3, or I71.4. —
[
  • 388 cases
  • , 9,843 controls
]
,
65.4 % Male samples
 Mean = 71.0 years
Sd = 13.7 years		 European — PMB —
PSS000956 Abdominal aortic aneurysm cases were defined as the presence of 2 instances of any of the following International Classification of Diseases (ICD)–9 or ICD-10 codes in a participant’s EHR: 441.3, 441.4, I71.3, or I71.4. Controls were defined as possessing no occurrences of the aforementioned ICD codes, as well as no occurrences of the ICD-9 codes 440 through 448 or ICD-10 codes I71 through I75, I77 through I79, or K55. —
[
  • 718 cases
  • , 46,380 controls
]
,
86.0 % Male samples
 Mean = 56.3 years
Sd = 11.8 years		 African unspecified — MVP —
PSS000957 Abdominal aortic aneurysm cases were defined as the presence of 2 instances of any of the following International Classification of Diseases (ICD)–9 or ICD-10 codes in a participant’s EHR: 441.3, 441.4, I71.3, or I71.4. —
[
  • 194 cases
  • , 9,331 controls
]
,
48.1 % Male samples
 Mean = 58.3 years
Sd = 19.5 years		 European — BioMe —