| Publication Information (EuropePMC) | |
| Title | Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia. |
| PubMed ID | 33079599(Europe PMC) |
| doi | 10.1161/circgen.120.002919 |
| Publication Date | Aug. 13, 2020 |
| Journal | Circ Genom Precis Med |
| Author(s) | Trinder M, Paquette M, Cermakova L, Ban MR, Hegele RA, Baass A, Brunham LR. |
Polygenic Score ID & Name
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PGS Publication ID (PGP)
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Reported Trait
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Mapped Trait(s) (Ontology)
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Number of Variants
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Ancestry distribution GWAS Dev Eval |
Scoring File (FTP Link)
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|---|---|---|---|---|---|---|
| PGS000340 (LDL-Cpsp) | PGP000107 | Trinder M et al. Circ Genom Precis Med (2020) | LDL cholesterol | low density lipoprotein cholesterol measurement | 28 | - | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000340/ScoringFiles/PGS000340.txt.gz |
PGS Performance Metric ID (PPM) |
Evaluated Score
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PGS Sample Set ID (PSS) |
Performance Source
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Trait
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PGS Effect Sizes (per SD change) |
Classification Metrics
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Other Metrics
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Covariates Included in the Model
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PGS Performance: Other Relevant Information |
|---|---|---|---|---|---|---|---|---|---|
| PPM000923 | PGS000340 (LDL-Cpsp) | PSS000465| Multi-ancestry (including European)| 1,120 individuals | PGP000107 | Trinder M et al. Circ Genom Precis Med (2020) | Reported Trait: Low-density lipoprotein cholesterol levels in familial hypercholesterolemia mutation carriers | — | — | Beta (per 20% increase in PGS): 0.13 [0.072, 0.19] | — | — |
| PPM000924 | PGS000340 (LDL-Cpsp) | PSS000466| European Ancestry| 389,127 individuals | PGP000107 | Trinder M et al. Circ Genom Precis Med (2020) | Reported Trait: Low-density lipoprotein cholesterol levels | β: 0.82 (0.006) | — | R²: 0.074 | Age, sex | — |
| PPM000925 | PGS000340 (LDL-Cpsp) | PSS000465| Multi-ancestry (including European)| 1,120 individuals | PGP000107 | Trinder M et al. Circ Genom Precis Med (2020) | Reported Trait: Atherosclerotic cardiovascular disease in familial hypercholesterolemia mutation carriers | — | — | Odds Ratio (OR; top 20% vs. rest): 1.48 [1.02, 2.14] | sex | — |
PGS Sample Set ID (PSS) |
Phenotype Definitions and Methods
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Participant Follow-up Time
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Sample Numbers
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Age of Study Participants
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Sample Ancestry
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Additional Ancestry Description
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Cohort(s)
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Additional Sample/Cohort Information
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|---|---|---|---|---|---|---|---|---|
| PSS000465 | Individuals ≥18 years with clinically diagnosed heterozygous familial hypercholesterolemia (FH) from... the BCFH cohort. Individuals who were positive for the common French Canadian variant in the LDLR gene including del.15 kb of the promoter and exon 1, del.5 kb of exons 2 and 3, p.W66G (exon 3), p.E207K (exon 4), p.Y468X (exon 10), or p.C646Y (exon 14) in this study. Fasting clinical lipid profiles were obtained following a 4-week washout of any cholesterol-lowering medications from the CNMA cohort. Individuals who were positive for a LDLR, APOB, or PCSK9 variant that was deemed to cause FH in the UKB cohort.Any atherosclerotic cardiovascular disease (ASCVD) event, which was defined as myocardial infarction, coronary artery disease or carotid revascularization, transient ischemic attack or stroke. For the UK Biobank, retrospecitvie ASCVD was self reported and prospective ASCVD were defined using hospital episode statistics and 10th revision of the International Statistical Classification of Diseases and Related Health Problems diagnosis codes and OPCS Classification of Interventions and Procedures version 4 procedure codesShow more | — | 1,120 individuals, 40.4 % Male samples | Mean = 41.36 years | European, NR | European (94%), Not reported (6%) | BCFH, CNMA, UKB | — |
| PSS000466 | Any atherosclerotic cardiovascular disease (ASCVD) event, which was defined as myocardial infarction... , coronary artery disease or carotid revascularization, transient ischemic attack or stroke. For the UK Biobank, retrospecitvie ASCVD was self reported and prospective ASCVD were defined using hospital episode statistics and 10th revision of the International Statistical Classification of Diseases and Related Health Problems diagnosis codes and OPCS Classification of Interventions and Procedures version 4 procedure codesShow more | — | 389,127 individuals | — | European | — | UKB | — |