PGS Publication: PGP000200

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.
Released in PGS Catalog: July 2, 2021

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution PGS Scoring File (FTP Link)
PGS000814
(GRS12_LDLc)
PGP000200 |
Talmud PJ et al. Lancet (2013)
Low-density lipoprotein cholesterol low density lipoprotein cholesterol measurement 12
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000814/ScoringFiles/PGS000814.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
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] : 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

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
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.
[
  • 640 cases
  • , 3,020 controls
]
European Whitehall Cases from the Oxford FH study (OXFH) and the Simon Broome British Heart Foundation Study (SBFH)