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.Show more
Released in PGS Catalog: July 29, 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

External PGS Evaluated By This Publication

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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 cholesterollow density lipoprotein cholesterol measurement16
G
-
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000814/ScoringFiles/PGS000814.txt.gz
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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.

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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
PPM002201PGS000814
(GRS12_LDLc)
PSS001072|
Ancestry Not Reported|
967 individuals
PGP000205 |
Rimbert A et al. Arterioscler Thromb Vasc Biol (2020)
|Ext.
Reported Trait: HypobetalipoproteinemiaPercentage of cases with polygenic etiology (%): 34.0Polygenic etiology = PRS<10th percentile
PPM002202PGS000814
(GRS12_LDLc)
PSS001072|
Ancestry Not Reported|
967 individuals
PGP000205 |
Rimbert A et al. Arterioscler Thromb Vasc Biol (2020)
|Ext.
Reported Trait: Liver steatosisOdds Ratio (OR, polygenic vs monogenic hypobetalipoproteinemia cases): 0.13 [0.1, 1.16]Age, sex
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Evaluated Samples

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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
PSS001072Cases were individuals with hypobetalipoproteinemia (HBL). Of the 111 individuals with HBL, 38 had p... olygenic 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.Show more
[
  • 111 cases
  • , 856 controls
]
Not reportedNRCases 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.Show more
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