| Publication Information (EuropePMC) | |
| Title | Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. |
| PubMed ID | 23433573(Europe PMC) |
| doi | 10.1016/s0140-6736(12)62127-8 |
| Publication Date | Feb. 22, 2013 |
| Journal | Lancet |
| Author(s) | Talmud PJ, Shah S, Whittall R, Futema M, Howard P, Cooper JA, Harrison SC, Li K, Drenos F, Karpe F, Neil HA, Descamps OS, Langenberg C, Lench N, Kivimaki M, Whittaker J, Hingorani AD, Kumari M, Humphries SE. |
| 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) |
|---|---|---|---|---|---|---|
| PGS000814 (GRS12_LDLc) |
PGP000200 | Talmud PJ et al. Lancet (2013) |
LDL cholesterol | low density lipoprotein cholesterol measurement | 16 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000814/ScoringFiles/PGS000814.txt.gz |
|
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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM002170 | PGS000814 (GRS12_LDLc) |
PSS001058| European Ancestry| 3,020 individuals |
PGP000200 | Talmud PJ et al. Lancet (2013) |
Reported Trait: Low-density lipoprotein cholesterol level >4.9mmol/L | — | — | Risk Ratio (RR, top 10% vs bottom 10%): 4.17 [3.01, 5.78] | — | — |
| PPM002171 | PGS000814 (GRS12_LDLc) |
PSS001059| European Ancestry| 3,660 individuals |
PGP000200 | Talmud PJ et al. Lancet (2013) |
Reported Trait: Low-density lipoprotein cholesterol level >4.9mmol/L in individuals who have familial hypercholestrolaemia and no known mutation | — | AUROC: 0.65 [0.62, 0.68] | — | — | — |
| PPM002168 | PGS000814 (GRS12_LDLc) |
PSS001058| European Ancestry| 3,020 individuals |
PGP000200 | Talmud PJ et al. Lancet (2013) |
Reported Trait: Low-density lipoprotein (LDL) cholesterol | β: 0.33 [0.3, 0.37] | — | R²: 0.11 | — | — |
| PPM002169 | PGS000814 (GRS12_LDLc) |
PSS001058| European Ancestry| 3,020 individuals |
PGP000200 | Talmud PJ et al. Lancet (2013) |
Reported Trait: Low-density lipoprotein (LDL) cholesterol | β: 0.34 [0.31, 0.38] | — | — | Sex, age, lipid-lowering drug use, body-mass index, diabetes status, smoking status, blood pressure | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS001058 | — | — | 3,020 individuals, 76.0 % Male samples |
Mean = 49.0 years Sd = 6.0 years |
European | — | Whitehall | — |
| PSS001059 | Cases are individuals with familial hypercholesterolaemia (FH). For the Simon Broome British Heart Foundation Study (SBFH), the diagnostic criteria for FH were defined by the Simon Broome Register criteria as an untreated total cholesterol above 7.5mmol/L or an LDL-C above 4.9mmol/L, and a family history of hypercholesterolaemia and/or early coronary heart disease for “possible FH”, and when together with the presence of tendon xanthomas either in the patient or in a first degree relative, as “definite FH”. Of the 640 FH individuals, 321 have FH with no known mutation, whilst 319 have FH with a known mutation. | — | [
|
— | European | — | Whitehall | Cases from the Oxford FH study (OXFH) and the Simon Broome British Heart Foundation Study (SBFH) |