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 term(s) 8 mapped terms
  • DOID:7693
  • MESH:D017544
  • MONDO:0005350
  • MSH:D017544
  • NCIt:C27000
  • SCTID:233985008
  • SNOMEDCT:233985008
  • UMLS:C0162871

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000753 PRS29_AAA PGP000159
Klarin D et al. Circulation (2020)
 Abdominal aortic aneurysm Abdominal Aortic Aneurysm 29 http://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 ID) 		Evaluated Score PGS Sample Set ID
(PSS ID) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM001912 PGS000753
(PRS29_AAA)
 PSS000958 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 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 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 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 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 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 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 ID) 		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 — IMP —