| Publication Information (EuropePMC) | |
| Title | A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia. |
| PubMed ID | 36528340(Europe PMC) |
| doi | 10.1016/j.trsl.2022.12.002 |
| Publication Date | Dec. 15, 2022 |
| Journal | Transl Res |
| Author(s) | Vanhoye X, Bardel C, Rimbert A, Moulin P, Rollat-Farnier PA, Muntaner M, Marmontel O, Dumont S, Char... rière S, Cornélis F, Ducluzeau PH, Fonteille A, Nobecourt E, Peretti N, Schillo F, Wargny M, Cariou B, Meirhaeghe A, Di Filippo M.Show more |
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)
|
|---|---|---|---|---|---|---|
| PGS003405 (165SNP_PRS) | PGP000422 | Vanhoye X et al. Transl Res (2022) | LDL cholesterol | low density lipoprotein cholesterol measurement | 169 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003405/ScoringFiles/PGS003405.txt.gz |
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)
|
|---|---|---|---|---|---|---|
| PGS003403 (PRS28_LDL) | PGP000420 | Trinder M et al. J Am Coll Cardiol (2019) | LDL cholesterol | low density lipoprotein cholesterol measurement | 28 | - | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003403/ScoringFiles/PGS003403.txt.gz |
| PGS003404 (wGRS) | PGP000421 | Wang J et al. Arterioscler Thromb Vasc Biol (2016) | LDL cholesterol | low density lipoprotein cholesterol measurement | 10 | - | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003404/ScoringFiles/PGS003404.txt.gz |
| 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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM017044 | PGS003405 (165SNP_PRS) | PSS010104| European Ancestry| 89,528 individuals | PGP000422 | Vanhoye X et al. Transl Res (2022) | Reported Trait: LDL-c blood concentration | β: 0.31 [0.3, 0.31] | AUROC: 0.6901 [0.684, 0.696] | R²: 0.1979 | Age, BMI, sex, age | — |
| PPM017045 | PGS000814 (GRS12_LDLc) | PSS010104| European Ancestry| 89,528 individuals | PGP000422 | Vanhoye X et al. Transl Res (2022) |Ext. | Reported Trait: LDL-c blood concentration | β: 0.25 [0.25, 0.26] | AUROC: 0.6503 [0.644, 0.657] | R²: 0.1055 | Age, BMI, sex, age | — |
| PPM017046 | PGS003403 (PRS28_LDL) | PSS010104| European Ancestry| 89,528 individuals | PGP000422 | Vanhoye X et al. Transl Res (2022) |Ext. | Reported Trait: LDL-c blood concentration | β: 0.18 [0.18, 0.18] | AUROC: 0.6233 [0.617, 0.63] | R²: 0.1055 | Age, BMI, sex, age | — |
| PPM017047 | PGS003404 (wGRS) | PSS010104| European Ancestry| 89,528 individuals | PGP000422 | Vanhoye X et al. Transl Res (2022) |Ext. | Reported Trait: LDL-c blood concentration | β: 0.16 [0.15, 0.16] | AUROC: 0.6072 [0.6, 0.614] | R²: 0.09317 | Age, BMI, sex, age | — |
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
|
|---|---|---|---|---|---|---|---|---|
| PSS010104 | — | — | 89,528 individuals | — | European | — | UKB | — |