Trait: metabolic syndrome

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000195
Description A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)
Trait category
Metabolic disorder
Synonyms 16 synonyms
  • Cardiovascular Syndrome, Metabolic
  • Cardiovascular Syndromes, Metabolic
  • Dysmetabolic Syndrome X
  • Insulin Resistance Syndrome X
  • MetS
  • Metabolic Cardiovascular Syndrome
  • Metabolic Syndrome X
  • Metabolic X Syndrome
  • Reaven Syndrome X
  • Syndrome X, Dysmetabolic
  • Syndrome X, Insulin Resistance
  • Syndrome X, Metabolic
  • Syndrome X, Reaven
  • Syndrome, Metabolic Cardiovascular
  • Syndrome, Metabolic X
  • X Syndrome, Metabolic
Mapped terms 8 mapped terms
  • DOID:14221
  • ICD9:277.7
  • MeSH:D024821
  • MedDRA:10052066
  • NCIt:C84442
  • OMIM:605552
  • OMIM:615812
  • SNOMEDCT:237602007

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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Ancestry legend
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Multi-ancestry (excluding European)
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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
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)
PGS004928
(MetS_gSEM)
 PGP000664 |
Park S et al. Nat Genet (2024)
 Metabolic syndrome metabolic syndrome 916,017
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004928/ScoringFiles/PGS004928.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
PPM021715 PGS004928
(MetS_gSEM)
 PSS011760|
East Asian Ancestry|
62,314 individuals
 PGP000664 |
Park S et al. Nat Genet (2024)
 Reported Trait: Metabolic syndrome OR: 1.18 [1.155, 1.205] — R²: 0.018 sex, age, genetic PCs (1-10) Logistic regression, Computed McFadden's pseudo-R^2
PPM021714 PGS004928
(MetS_gSEM)
 PSS011761|
European Ancestry|
11,139 individuals
 PGP000664 |
Park S et al. Nat Genet (2024)
 Reported Trait: Metabolic syndrome OR: 1.239 [1.191, 1.289] — R²: 0.046 sex, age, genetic PCs (1-10) Logistic regression, Computed McFadden's pseudo-R^2

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
PSS011760 We used criteria defined by AHA/NHLBI was used to define MetS for individuals in KoGES. The criteria are as follows: elevated waist circumference (Asian with WCmen ≥90 cm and WCwomen ≥80 cm, elevated TG (TG ≥150 mg/dL), sex-specific reduced HDL-C (HDL-Cmen <40 mg/dL and HDL-Cwomen <50 mg/dL), elevated blood pressure (systolic ≥130 mmHg and diastolic ≥85 mmHg), and elevated FG (FG ≥100 mg/dL). The individuals were categorized as MetS positive if they satisfied three out of five criteria. —
[
  • 10,684 cases
  • , 51,630 controls
]
 — East Asian
(Korean)		 — KoGES —
PSS011761 We assigned the dichotomous MetS status based on AHA/NHLBI that consists of five criteria as follows: population- and sex-specific elevated waist circumference (WC, European with WCmen ≥102 cm and WCwomen ≥88 cm), elevated triglycerides (TG, TG ≥150 mg/dL), sex-specific reduced high-density lipoprotein cholesterol (HDL-C, HDL-Cmen <40 mg/dL and HDL-Cwomen < 50mg/dL), elevated blood pressure (BP, systolic ≥130 mmHg and diastolic ≥85 mmHg), and elevated fasting glucose (FG, FG ≥100 mg/dL). The individuals who satisfied three out of five criteria based on AHA/NHLBI were categorized as MetS case. —
[
  • 4,641 cases
  • , 6,498 controls
]
 — European — UKB —