Trait: aortic disorder

Trait Information
Identifier MONDO_0005561
Description Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC) [NCIT: P378]
Trait category
Other trait
Synonyms 5 synonyms
  • aorta disease
  • aorta disease or disorder
  • disease of aorta
  • disease or disorder of aorta
  • disorder of aorta
Child trait(s) 3 child traits

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 PGS for child terms of "aortic disorder" in the EFO hierarchy.
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
PGS001025
(GBE_HC951)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Nonrheumatic aortic valve disorders (time-to-event) aortic valve disorder 36
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001025/ScoringFiles/PGS001025.txt.gz
PGS001784
(1kgeur_gbmi_leaveUKBBout_AAA_pst_eff_a1_b0.5_phiauto)
 PGP000262 |
Wang Y et al. Cell Genom (2023)
 Abdominal aortic aneurysm abdominal aortic aneurysm 911,440
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001784/ScoringFiles/PGS001784.txt.gz
PGS002054
(portability-ldpred2_442.11)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Abdominal aortic aneurysm abdominal aortic aneurysm 592,187
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002054/ScoringFiles/PGS002054.txt.gz
PGS003429
(AAA)
 PGP000436 |
Kelemen M et al. Nat Commun (2024)
 Abdominal aortic aneurysm abdominal aortic aneurysm 831,447
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003429/ScoringFiles/PGS003429.txt.gz
PGS003972
(PRSAAA)
 PGP000513 |
Roychowdhury T et al. Nat Genet (2023)
 Abdominal aortic aneurysm abdominal aortic aneurysm 1,118,997
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003972/ScoringFiles/PGS003972.txt.gz
PGS003973
(PRSAAA_woUKB)
 PGP000513 |
Roychowdhury T et al. Nat Genet (2023)
 Abdominal aortic aneurysm abdominal aortic aneurysm 1,118,997
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003973/ScoringFiles/PGS003973.txt.gz
PGS005252
(IAVGC_AS_PRS)
 PGP000745 |
Small AM et al. Nat Genet (2025)
 Aortic stenosis aortic stenosis 1,119,377
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005252/ScoringFiles/PGS005252.txt.gz
PGS005254
(aortic_stenosis)
 PGP000747 |
Kany S et al. Nat Genet (2025)
 Aortic stenosis aortic stenosis 1,110,912
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005254/ScoringFiles/PGS005254.txt.gz
PGS005255
(mean_gradient)
 PGP000747 |
Kany S et al. Nat Genet (2025)
 Mean pressure gradient aortic stenosis,
aortic measurement		 1,111,632
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005255/ScoringFiles/PGS005255.txt.gz
PGS005256
(peak_velocity)
 PGP000747 |
Kany S et al. Nat Genet (2025)
 Peak aortic velocity aortic stenosis,
aortic measurement		 1,111,632
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005256/ScoringFiles/PGS005256.txt.gz
PGS012563
(PRS31_AAA)
 PGP000803 |
Ma Y et al. Eur Heart J (2024)
 Abdominal aortic aneurysm abdominal aortic aneurysm 31
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS012563/ScoringFiles/PGS012563.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. —
PPM007888 PGS001025
(GBE_HC951)
 PSS004736|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE nonrheumatic aortic valve disorders — AUROC: 0.82312 [0.77164, 0.87459] R²: 0.11205
Incremental AUROC (full-covars): -0.00433
PGS R2 (no covariates): 0.00601
PGS AUROC (no covariates): 0.42408 [0.32798, 0.52019]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007889 PGS001025
(GBE_HC951)
 PSS004737|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE nonrheumatic aortic valve disorders — AUROC: 0.85035 [0.70276, 0.99795] R²: 0.20912
Incremental AUROC (full-covars): 0.0036
PGS R2 (no covariates): 0.00383
PGS AUROC (no covariates): 0.57568 [0.385, 0.76636]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007890 PGS001025
(GBE_HC951)
 PSS004738|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE nonrheumatic aortic valve disorders — AUROC: 0.7688 [0.74115, 0.79645] R²: 0.09382
Incremental AUROC (full-covars): 0.00229
PGS R2 (no covariates): 0.00416
PGS AUROC (no covariates): 0.55883 [0.52408, 0.59358]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007891 PGS001025
(GBE_HC951)
 PSS004739|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE nonrheumatic aortic valve disorders — AUROC: 0.7872 [0.73952, 0.83487] R²: 0.10086
Incremental AUROC (full-covars): 2e-05
PGS R2 (no covariates): 0.00021
PGS AUROC (no covariates): 0.49071 [0.41731, 0.5641]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007892 PGS001025
(GBE_HC951)
 PSS004740|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE nonrheumatic aortic valve disorders — AUROC: 0.72257 [0.70467, 0.74046] R²: 0.05934
Incremental AUROC (full-covars): 0.00304
PGS R2 (no covariates): 0.00268
PGS AUROC (no covariates): 0.5466 [0.52408, 0.56913]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009288 PGS001784
(1kgeur_gbmi_leaveUKBBout_AAA_pst_eff_a1_b0.5_phiauto)
 PSS007707|
European Ancestry|
350,767 individuals
 PGP000262 |
Wang Y et al. Cell Genom (2023)
 Reported Trait: Abdominal aortic aneurysm — AUROC: 0.868 Nagelkerke's R2 (covariates regressed out): 0.01466 sex,age,age2,age*sex,age^2*sex, 20PCs —
PPM011294 PGS002054
(portability-ldpred2_442.11)
 PSS009317|
European Ancestry|
19,545 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Abdominal aortic aneurysm — — Partial Correlation (partial-r): 0.0144 sex, age, birth date, deprivation index, 16 PCs —
PPM011295 PGS002054
(portability-ldpred2_442.11)
 PSS009091|
European Ancestry|
4,042 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Abdominal aortic aneurysm — — Partial Correlation (partial-r): 0.0382 [0.0073, 0.069] sex, age, birth date, deprivation index, 16 PCs —
PPM011296 PGS002054
(portability-ldpred2_442.11)
 PSS008645|
European Ancestry|
6,542 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Abdominal aortic aneurysm — — Partial Correlation (partial-r): 0.0139 [-0.0104, 0.0382] sex, age, birth date, deprivation index, 16 PCs —
PPM011297 PGS002054
(portability-ldpred2_442.11)
 PSS008419|
Greater Middle Eastern Ancestry|
1,183 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Abdominal aortic aneurysm — — Partial Correlation (partial-r): 0.0222 [-0.0354, 0.0795] sex, age, birth date, deprivation index, 16 PCs —
PPM011298 PGS002054
(portability-ldpred2_442.11)
 PSS008199|
South Asian Ancestry|
6,205 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Abdominal aortic aneurysm — — Partial Correlation (partial-r): 0.0007 [-0.0243, 0.0256] sex, age, birth date, deprivation index, 16 PCs —
PPM011299 PGS002054
(portability-ldpred2_442.11)
 PSS007981|
East Asian Ancestry|
1,791 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Abdominal aortic aneurysm — — Partial Correlation (partial-r): 0.025 [-0.0216, 0.0715] sex, age, birth date, deprivation index, 16 PCs —
PPM011300 PGS002054
(portability-ldpred2_442.11)
 PSS007764|
African Ancestry|
2,435 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Abdominal aortic aneurysm — — Partial Correlation (partial-r): 0.0069 [-0.033, 0.0468] sex, age, birth date, deprivation index, 16 PCs —
PPM011301 PGS002054
(portability-ldpred2_442.11)
 PSS008868|
African Ancestry|
3,861 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Abdominal aortic aneurysm — — Partial Correlation (partial-r): -0.0158 [-0.0474, 0.0158] sex, age, birth date, deprivation index, 16 PCs —
PPM017103 PGS003429
(AAA)
 PSS010126|
European Ancestry|
91,731 individuals
 PGP000436 |
Kelemen M et al. Nat Commun (2024)
 Reported Trait: Abdominal aortic aneurysm — AUROC: 0.708 [0.691, 0.725] R²: 0.00547 — —
PPM019134 PGS003972
(PRSAAA)
 PSS011199|
European Ancestry|
6,940 individuals
 PGP000513 |
Roychowdhury T et al. Nat Genet (2023)
 Reported Trait: Abdominal aortic aneurysm — AUROC: 0.69 — — —
PPM019135 PGS003972
(PRSAAA)
 PSS011197|
European Ancestry|
7,324 individuals
 PGP000513 |
Roychowdhury T et al. Nat Genet (2023)
 Reported Trait: Abdominal aortic aneurysm — AUROC: 0.66 — — —
PPM019136 PGS003972
(PRSAAA)
 PSS011198|
European Ancestry|
3,768 individuals
 PGP000513 |
Roychowdhury T et al. Nat Genet (2023)
 Reported Trait: Abdominal aortic aneurysm — AUROC: 0.64 — — —
PPM019137 PGS003973
(PRSAAA_woUKB)
 PSS011200|
European Ancestry|
7,517 individuals
 PGP000513 |
Roychowdhury T et al. Nat Genet (2023)
 Reported Trait: Abdominal aortic aneurysm — C-index: 0.882 [0.872, 0.892] — Age, Age^2, Sex —
PPM022733 PGS005252
(IAVGC_AS_PRS)
 PSS012066|
European Ancestry|
446,895 individuals
 PGP000745 |
Small AM et al. Nat Genet (2025)
 Reported Trait: Incident aortic stenosis cases HR: 1.92 C-index: 0.87 — age, sex, genetic ancestry principal components 1-5, type 2 diabetes, hypertension, coronary artery disease, hyperlipidemia, body mass index, current smoking, renal failure. —
PPM022734 PGS005252
(IAVGC_AS_PRS)
 PSS012065|
European Ancestry|
34,024 individuals
 PGP000745 |
Small AM et al. Nat Genet (2025)
 Reported Trait: Any aortic stenosis OR: 1.43 — — age, sex, genetic ancestry principal components 1-5, type 2 diabetes, hypertension, coronary artery disease, hyperlipidemia, body mass index, current smoking, renal failure. —
PPM022735 PGS005252
(IAVGC_AS_PRS)
 PSS012064|
European Ancestry|
59,866 individuals
 PGP000745 |
Small AM et al. Nat Genet (2025)
 Reported Trait: Incident aortic stenosis cases HR: 1.8 C-index: 0.76 — age, sex, genetic ancestry principal components 1-5, type 2 diabetes, hypertension, coronary artery disease, hyperlipidemia, body mass index, current smoking, renal failure. —
PPM022737 PGS005254
(aortic_stenosis)
 PSS012068|
European Ancestry|
244,450 individuals
 PGP000747 |
Kany S et al. Nat Genet (2025)
 Reported Trait: incident aortic stenosis HR: 1.64 [1.5, 1.78] — — self-reported sex, age at DNA collection, age2 at DNA collection, and the first five principal components of genetic ancestry. —
PPM022738 PGS005255
(mean_gradient)
 PSS012068|
European Ancestry|
244,450 individuals
 PGP000747 |
Kany S et al. Nat Genet (2025)
 Reported Trait: incident aortic stenosis HR: 1.53 [1.4, 1.66] — — self-reported sex, age at DNA collection, age2 at DNA collection, and the first five principal components of genetic ancestry. —
PPM022739 PGS005256
(peak_velocity)
 PSS012068|
European Ancestry|
244,450 individuals
 PGP000747 |
Kany S et al. Nat Genet (2025)
 Reported Trait: incident aortic stenosis HR: 1.53 [1.41, 1.67] — — self-reported sex, age at DNA collection, age2 at DNA collection, and the first five principal components of genetic ancestry. —
PPM030698 PGS012563
(PRS31_AAA)
 PSS012254|
European Ancestry|
449,463 individuals
 PGP000803 |
Ma Y et al. Eur Heart J (2024)
 Reported Trait: Incident Abdominal aortic aneurysm HR: 1.25 [1.19, 1.31] — — age, sex, family income, TDI, education, employment, alcohol consumption status, tobacco consumption status, healthy diet score, physical activity, BMI, eGFR, SBP, HbA1c, lipid profile, anti-hypertensive medication, anti-hyperglycemic medication, lipid-lowering medication, genotyping batch, and the first 10 genetic principal components —
PPM030699 PGS012563
(PRS31_AAA)
 PSS012254|
European Ancestry|
449,463 individuals
 PGP000803 |
Ma Y et al. Eur Heart J (2024)
 Reported Trait: Incident Abdominal aortic aneurysm x PM2.5 pollution exposure interaction — — Hazard ratio (HR, high air pollutants exposure and high PRS vs. low air pollutants exposure and low PRS): 3.18 [2.46, 4.12] age, sex, family income, Townsend deprivation index, education, employment, alcohol consumption status, tobacco consumption status, healthy diet score, physical activity, body mass index, estimated glomerular filtration rate, systolic blood pressure, glycated haemoglobin, lipid profile, anti-hypertensive medication, anti-hyperglycaemic medication, and lipid-lowering medication, genotyping batch, the first 10 genetic principal components —
PPM030700 PGS012563
(PRS31_AAA)
 PSS012254|
European Ancestry|
449,463 individuals
 PGP000803 |
Ma Y et al. Eur Heart J (2024)
 Reported Trait: Incident Abdominal aortic aneurysm x PM10 pollution exposure interaction — — Hazard ratio (HR, high air pollutants exposure and high PRS vs. low air pollutants exposure and low PRS): 3.09 [2.39, 4.0] age, sex, family income, Townsend deprivation index, education, employment, alcohol consumption status, tobacco consumption status, healthy diet score, physical activity, body mass index, estimated glomerular filtration rate, systolic blood pressure, glycated haemoglobin, lipid profile, anti-hypertensive medication, anti-hyperglycaemic medication, and lipid-lowering medication, genotyping batch, the first 10 genetic principal components —
PPM030701 PGS012563
(PRS31_AAA)
 PSS012254|
European Ancestry|
449,463 individuals
 PGP000803 |
Ma Y et al. Eur Heart J (2024)
 Reported Trait: Incident Abdominal aortic aneurysm x NO2 pollution exposure interaction — — Hazard ratio (HR, high air pollutants exposure and high PRS vs. low air pollutants exposure and low PRS): 2.41 [1.86, 3.13] age, sex, family income, Townsend deprivation index, education, employment, alcohol consumption status, tobacco consumption status, healthy diet score, physical activity, body mass index, estimated glomerular filtration rate, systolic blood pressure, glycated haemoglobin, lipid profile, anti-hypertensive medication, anti-hyperglycaemic medication, and lipid-lowering medication, genotyping batch, the first 10 genetic principal components —
PPM030702 PGS012563
(PRS31_AAA)
 PSS012254|
European Ancestry|
449,463 individuals
 PGP000803 |
Ma Y et al. Eur Heart J (2024)
 Reported Trait: Incident Abdominal aortic aneurysm x NOx pollution exposure interaction — — Hazard ratio (HR, high air pollutants exposure and high PRS vs. low air pollutants exposure and low PRS): 2.01 [1.55, 2.61] age, sex, family income, Townsend deprivation index, education, employment, alcohol consumption status, tobacco consumption status, healthy diet score, physical activity, body mass index, estimated glomerular filtration rate, systolic blood pressure, glycated haemoglobin, lipid profile, anti-hypertensive medication, anti-hyperglycaemic medication, and lipid-lowering medication, genotyping batch, the first 10 genetic principal components —

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
PSS008645 — — 6,542 individuals — European Italy (South Europe) UKB —
PSS007764 — — 2,435 individuals — African American or Afro-Caribbean Carribean UKB —
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 —
PSS008419 — — 1,183 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
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 —
PSS009317 — — 19,545 individuals — European UK (+ Ireland) UKB —
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 —
PSS010126 — —
[
  • 921 cases
  • , 90,810 controls
]
 — European
(U.K.)		 — UKB —
PSS009091 — — 4,042 individuals — European Poland (NE Europe) UKB —
PSS008199 — — 6,205 individuals — South Asian India (South Asia) UKB —
PSS004736 — —
[
  • 36 cases
  • , 6,461 controls
]
 — African unspecified — UKB —
PSS004737 — —
[
  • 10 cases
  • , 1,694 controls
]
 — East Asian — UKB —
PSS004738 — —
[
  • 262 cases
  • , 24,643 controls
]
 — European non-white British ancestry UKB —
PSS004739 — —
[
  • 65 cases
  • , 7,766 controls
]
 — South Asian — UKB —
PSS004740 — —
[
  • 654 cases
  • , 66,771 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS007707 — —
[
  • 1,099 cases
  • , 349,667 controls
]
 — European — UKB —
PSS012066 IAVGC phenotype definition (see detailed description in manuscript) —
[
  • 3,302 cases
]
 Mean = 62.1 years European
(European)		 — UKB —
PSS012065 IAVGC phenotype definition (see detailed description in manuscript) —
[
  • 1,806 cases
]
 — European
(European)		 — UCLA —
PSS012064 The aortic stenosis PRS was tested for its association with aortic stenosis using safety data from the TIMI trials. Aortic stenosis was called for any adverse event referencing aortic stenosis, including new or worsening aortic stenosis. —
[
  • 256 cases
]
 — European
(European)		 — ENGAGE_AF-TIMI_48, FOURIER, PEGASUS-TIMI_54, SAVOR-TIMI_53, SOLID-TIMI_52 These data also include samples from DECLARE-TIMI 58 (not in the cohort refr. List)
PSS012254 — Median = 12.66 years
[
  • 1,626 cases
  • , 447,837 controls
]
,
44.39 % Male samples
 Mean = 56.22 years
Sd = 8.09 years		 European — UKB —
PSS008868 — — 3,861 individuals — African unspecified Nigeria (West Africa) UKB —
PSS012068 incident aortic stenosis (using ICD and CPT codes) —
[
  • 496 cases
  • , 243,954 controls
]
 — European — AllofUs —
PSS007981 — — 1,791 individuals — East Asian China (East Asia) UKB —
PSS011197 — —
[
  • 1,887 cases
  • , 5,437 controls
]
 — European — WTCCC —
PSS011198 — —
[
  • 663 cases
  • , 3,105 controls
]
 — European — UCC-SMART —
PSS011199 — —
[
  • 1,130 cases
  • , 5,810 controls
]
 — European — OxAAA, UKAGS, UKB, UppsalaAAA, VIVA —
PSS011200 — —
[
  • 1,241 cases
  • , 6,276 controls
]
 — European — UKB —