| Publication Information (EuropePMC) | |
| Title | Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia. |
| PubMed ID | 33207932(Europe PMC) |
| doi | 10.1161/atvbaha.120.315491 |
| Publication Date | Nov. 19, 2020 |
| Journal | Arterioscler Thromb Vasc Biol |
| Author(s) | Rimbert A, Vanhoye X, Coulibaly D, Marrec M, Pichelin M, Charrière S, Peretti N, Valéro R, Wargny M, Carrié A, Lindenbaum P, Deleuze JF, Genin E, Redon R, Rollat-Farnier PA, Goxe D, Degraef G, Marmontel O, Divry E, Bigot-Corbel E, Moulin P, Cariou B, Di Filippo M. |
| 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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM002202 | PGS000814 (GRS12_LDLc) |
PSS001072| Ancestry Not Reported| 967 individuals |
PGP000205 | Rimbert A et al. Arterioscler Thromb Vasc Biol (2020) |Ext. |
Reported Trait: Liver steatosis | — | — | Odds Ratio (OR, polygenic vs monogenic hypobetalipoproteinemia cases): 0.13 [0.1, 1.16] | Age, sex | — |
| PPM002201 | PGS000814 (GRS12_LDLc) |
PSS001072| Ancestry Not Reported| 967 individuals |
PGP000205 | Rimbert A et al. Arterioscler Thromb Vasc Biol (2020) |Ext. |
Reported Trait: Hypobetalipoproteinemia | — | — | Percentage of cases with polygenic etiology (%): 34.0 | — | Polygenic etiology = PRS<10th percentile |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS001072 | Cases were individuals with hypobetalipoproteinemia (HBL). Of the 111 individuals with HBL, 38 had polygenic HBL, 40 had monogenic HBL and 33 had HBL from an unknown cause. Polgenic HBL was defined by a polygenic risk score (PRS) < 10th percentile of controls (PRS < 0.5925). For the 40 monogenic HBL individuals, 38 carried heterozygous APOB loss of fucntion variants and 2 carried heterozygous PCSK9 loss of function variants. In a subset of HBL cases, 7 polygenic cases , 26 monogenic cases and 13 uknown cause cases had liver steatosis. Whilst 17, 6 and 9 individuals did not have liver steatosis, respectively. Liver steatosis was diagnosed by abdominal ultrasonography. Alanine aminotransferase (ALT), aspartate aminotransferase, and gamma-glutamyl transpeptidase were determined by IFCC-standardized enzymatic methods using dedicated commercial kits. Individuals with ALT >1 upper limit of normal (>97.5th percentile) were considered to likely have liver injury. | — | [
|
— | Not reported | — | NR | Cases were obtained from the HYPOCHOL and GENLIP studies. Controls were obtained from the PREGO and GAZEL cohorts and the Finstère area, which are part of the FranceGenRef Consortium. |