PGS Publication: PGP000147

Publication Information (EuropePMC)
Title Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits.
PubMed ID 33623009(Europe PMC)
doi 10.1038/s41467-021-21381-3
Publication Date Feb. 23, 2021
Journal Nat Commun
Author(s) Thareja G, Al-Sarraj Y, Belkadi A, Almotawa M, Qatar Genome Program Research (QGPR) Consortium, Suhre K, Albagha OME.
Released in PGS Catalog: March 22, 2021

Associated Polygenic Score(s)

External PGS Evaluated By This Publication

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000167 hct PGP000078
Vuckovic D et al. Cell (2020)
 Hematocrit hematocrit 502 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000167/ScoringFiles/PGS000167.txt.gz
PGS000168 hgb PGP000078
Vuckovic D et al. Cell (2020)
 Hemoglobin concentration hemoglobin measurement 515 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000168/ScoringFiles/PGS000168.txt.gz
PGS000297 GRS3290_Height PGP000092
Xie T et al. Circ Genom Precis Med (2020)
 Height body height 3,290 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000297/ScoringFiles/PGS000297.txt.gz
PGS000187 rbc PGP000078
Vuckovic D et al. Cell (2020)
 Red blood cell count erythrocyte count 678 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000187/ScoringFiles/PGS000187.txt.gz
PGS000174 mch PGP000078
Vuckovic D et al. Cell (2020)
 Mean corpuscular hemoglobin mean corpuscular hemoglobin 628 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000174/ScoringFiles/PGS000174.txt.gz
PGS000175 mchc PGP000078
Vuckovic D et al. Cell (2020)
 Mean corpuscular hemoglobin concentration mean corpuscular hemoglobin concentration 224 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000175/ScoringFiles/PGS000175.txt.gz
PGS000176 mcv PGP000078
Vuckovic D et al. Cell (2020)
 Mean corpuscular volume mean corpuscular volume 685 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000176/ScoringFiles/PGS000176.txt.gz
PGS000179 mpv PGP000078
Vuckovic D et al. Cell (2020)
 Mean platelet volume mean platelet volume 654 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000179/ScoringFiles/PGS000179.txt.gz
PGS000186 plt PGP000078
Vuckovic D et al. Cell (2020)
 Platelet count platelet count 739 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000186/ScoringFiles/PGS000186.txt.gz
PGS000027 GPS_BMI PGP000017
Khera AV et al. Cell (2019)
 Body Mass Index body mass index 2,100,302 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000027/ScoringFiles/PGS000027.txt.gz - Check Terms/Licenses
PGS000191 wbc PGP000078
Vuckovic D et al. Cell (2020)
 White blood cell count leukocyte count 636 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000191/ScoringFiles/PGS000191.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 ID) 		Evaluated Score PGS Sample Set ID
(PSS ID) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM001777 PGS000167
(hct)
 PSS000911 PGP000147
Thareja G et al. Nat Commun (2021)
Ext.		 Reported Trait: Hematocrit — — Pearson correlation coefficent (r): 0.15 — —
PPM001778 PGS000168
(hgb)
 PSS000911 PGP000147
Thareja G et al. Nat Commun (2021)
Ext.		 Reported Trait: Hemoglobin — — Pearson correlation coefficent (r): 0.14 — —
PPM001775 PGS000186
(plt)
 PSS000911 PGP000147
Thareja G et al. Nat Commun (2021)
Ext.		 Reported Trait: Platelet count — — Pearson correlation coefficent (r): 0.35 — —
PPM001776 PGS000179
(mpv)
 PSS000911 PGP000147
Thareja G et al. Nat Commun (2021)
Ext.		 Reported Trait: Mean platelet volume — — Pearson correlation coefficent (r): 0.51 — —
PPM001768 PGS000297
(GRS3290_Height)
 PSS000911 PGP000147
Thareja G et al. Nat Commun (2021)
Ext.		 Reported Trait: Height — — Pearson correlation coefficent (r): 0.15 — —
PPM001769 PGS000027
(GPS_BMI)
 PSS000911 PGP000147
Thareja G et al. Nat Commun (2021)
Ext.		 Reported Trait: Body mass index — — Pearson correlation coefficent (r): 0.22 — —
PPM001770 PGS000191
(wbc)
 PSS000911 PGP000147
Thareja G et al. Nat Commun (2021)
Ext.		 Reported Trait: White blood cell count — — Pearson correlation coefficent (r): 0.19 — —
PPM001771 PGS000187
(rbc)
 PSS000911 PGP000147
Thareja G et al. Nat Commun (2021)
Ext.		 Reported Trait: Red blood cell count — — Pearson correlation coefficent (r): 0.22 — —
PPM001772 PGS000175
(mchc)
 PSS000911 PGP000147
Thareja G et al. Nat Commun (2021)
Ext.		 Reported Trait: Mean cell hemoglobin concentration — — Pearson correlation coefficent (r): 0.12 — —
PPM001773 PGS000174
(mch)
 PSS000911 PGP000147
Thareja G et al. Nat Commun (2021)
Ext.		 Reported Trait: Mean corpuscular hemoglobin — — Pearson correlation coefficent (r): 0.22 — —
PPM001774 PGS000176
(mcv)
 PSS000911 PGP000147
Thareja G et al. Nat Commun (2021)
Ext.		 Reported Trait: Mean corpuscular volume — — Pearson correlation coefficent (r): 0.23 — —

Evaluated Samples

PGS Sample Set ID
(PSS 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
PSS000911 — — 13,989 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian)
(Qatari)		 — QBB —