Trait: Abdominal Aortic Aneurysm

Experimental Factor Ontology (EFO) Information
Identifier EFO_0004214
Description Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs. [NCIT: P378]
Trait category
Cardiovascular disease
Synonyms 3 synonyms
  • Aortic Aneurysm, Abdominal
  • abdominal aortic aneurysm
  • aortic aneurysm, familial abdominal 1
Mapped terms 10 mapped terms
  • DOID:7693
  • MEDGEN:56524
  • MESH:D017544
  • MONDO:0005350
  • MedDRA:10000054
  • NCIt:C27000
  • SCTID:233985008
  • SNOMEDCT:233985008
  • UMLS:C0162871
  • icd11.foundation:1154633768

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)
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
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

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. —
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 —

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 —
PSS009317 — — 19,545 individuals — European UK (+ Ireland) UKB —
PSS008645 — — 6,542 individuals — European Italy (South Europe) UKB —
PSS008419 — — 1,183 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS007707 — —
[
  • 1,099 cases
  • , 349,667 controls
]
 — European — UKB —
PSS008199 — — 6,205 individuals — South Asian India (South Asia) UKB —
PSS008868 — — 3,861 individuals — African unspecified Nigeria (West Africa) UKB —
PSS011199 — —
[
  • 1,130 cases
  • , 5,810 controls
]
 — European — OxAAA, UKAGS, UKB, UppsalaAAA, VIVA —
PSS007981 — — 1,791 individuals — East Asian China (East Asia) UKB —
PSS011200 — —
[
  • 1,241 cases
  • , 6,276 controls
]
 — European — UKB —
PSS007764 — — 2,435 individuals — African American or Afro-Caribbean Carribean UKB —
PSS010126 — —
[
  • 921 cases
  • , 90,810 controls
]
 — European
(U.K.)		 — UKB —
PSS009091 — — 4,042 individuals — European Poland (NE Europe) UKB —
PSS011197 — —
[
  • 1,887 cases
  • , 5,437 controls
]
 — European — WTCCC —
PSS011198 — —
[
  • 663 cases
  • , 3,105 controls
]
 — European — UCC-SMART —
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 —