PGS Publication: PGP000406

Publication Information (EuropePMC)
Title Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.
PubMed ID 36329474(Europe PMC)
doi 10.1186/s12967-022-03697-w
Publication Date Nov. 3, 2022
Journal J Transl Med
Author(s) Gandhi GD, Aamer W, Krishnamoorthy N, Syed N, Aliyev E, Al-Maraghi A, Kohailan M, Alenbawi J, Elanbari M, Qatar Genome Program Research Consortium (QGPRC), Mifsud B, Mokrab Y, Khalil CA, Fakhro KA.
Released in PGS Catalog: Dec. 20, 2022

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Additional Diverse Ancestries
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
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

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
PPM016205 PGS000814
(GRS12_LDLc)
 PSS010056|
Greater Middle Eastern Ancestry|
6,140 individuals
 PGP000406 |
Gandhi GD et al. J Transl Med (2022)
|Ext.		 Reported Trait: Probable vs. unlikely dyslipidemia — — p: 0.0003 — —

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
PSS010056 — — 6,140 individuals,
43.0 % Male samples
 Median = 39.0 years Greater Middle Eastern (Middle Eastern, North African or Persian)
(Middle Eastern Arabs)		 — QBB —