PGS Publication: PGP000159

Publication Information (EuropePMC)
Title Genetic Architecture of Abdominal Aortic Aneurysm in the Million Veteran Program.
PubMed ID 32981348(Europe PMC)
doi 10.1161/circulationaha.120.047544
Publication Date Sept. 28, 2020
Journal Circulation
Author(s) Klarin D, Verma SS, Judy R, Dikilitas O, Wolford BN, Paranjpe I, Levin MG, Pan C, Tcheandjieu C, Spin JM, Lynch J, Assimes TL, Åldstedt Nyrønning L, Mattsson E, Edwards TL, Denny J, Larson E, Lee MTM, Carrell D, Zhang Y, Jarvik GP, Gharavi AG, Harley J, Mentch F, Pacheco JA, Hakonarson H, Skogholt AH, Thomas L, Gabrielsen ME, Hveem K, Nielsen JB, Zhou W, Fritsche L, Huang J, Natarajan P, Sun YV, DuVall SL, Rader DJ, Cho K, Chang KM, Wilson PWF, O'Donnell CJ, Kathiresan S, Scali ST, Berceli SA, Willer C, Jones GT, Bown MJ, Nadkarni G, Kullo IJ, Ritchie M, Damrauer SM, Tsao PS, Veterans Affairs Million Veteran Program†.
Released in PGS Catalog: April 7, 2021

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:
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Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
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South Asian
Additional Asian Ancestries
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Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

PGS Developed By This Publication

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)
PGS000753
(PRS29_AAA)
PGP000159 |
Klarin D et al. Circulation (2020)
Abdominal aortic aneurysm Abdominal Aortic Aneurysm 29
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000753/ScoringFiles/PGS000753.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
PPM001912 PGS000753
(PRS29_AAA)
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 PGS000753
(PRS29_AAA)
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 PGS000753
(PRS29_AAA)
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 PGS000753
(PRS29_AAA)
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 PGS000753
(PRS29_AAA)
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 PGS000753
(PRS29_AAA)
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 PGS000753
(PRS29_AAA)
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