PGS Publication: PGP000205

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.
Released in PGS Catalog: July 29, 2021

Associated Polygenic Score(s)

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Not Reported

External PGS Evaluated By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGP000200 |
Talmud PJ et al. Lancet (2013)
LDL cholesterol low density lipoprotein cholesterol measurement 12

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
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
Ancestry Not Reported|
967 individuals
PGP000205 |
Rimbert A et al. Arterioscler Thromb Vasc Biol (2020)
Reported Trait: Liver steatosis Odds Ratio (OR, polygenic vs monogenic hypobetalipoproteinemia cases): 0.13 [0.1, 1.16] Age, sex
PPM002201 PGS000814
Ancestry Not Reported|
967 individuals
PGP000205 |
Rimbert A et al. Arterioscler Thromb Vasc Biol (2020)
Reported Trait: Hypobetalipoproteinemia Percentage of cases with polygenic etiology (%): 34.0 Polygenic etiology = PRS<10th percentile

Evaluated Samples

PGS Sample Set ID
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.
  • 111 cases
  • , 856 controls
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.