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)

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:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
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)
PGS000167
(hct)
 PGP000078 |
Vuckovic D et al. Cell (2020)
 Hematocrit hematocrit 502
-
 https://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
-
 https://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
-
 https://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
-
 https://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
-
 https://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
-
 https://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 erythrocyte volume 685
-
 https://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 platelet volume 654
-
 https://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
-
 https://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 (BMI) body mass index 2,100,302
https://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 quantity 636
-
 https://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) 		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
PPM001777 PGS000167
(hct)
 PSS000911|
Greater Middle Eastern Ancestry|
13,989 individuals
 PGP000147 |
Thareja G et al. Nat Commun (2021)
|Ext.		 Reported Trait: Hematocrit — — Pearson correlation coefficent (r): 0.15 — —
PPM001778 PGS000168
(hgb)
 PSS000911|
Greater Middle Eastern Ancestry|
13,989 individuals
 PGP000147 |
Thareja G et al. Nat Commun (2021)
|Ext.		 Reported Trait: Hemoglobin — — Pearson correlation coefficent (r): 0.14 — —
PPM001775 PGS000186
(plt)
 PSS000911|
Greater Middle Eastern Ancestry|
13,989 individuals
 PGP000147 |
Thareja G et al. Nat Commun (2021)
|Ext.		 Reported Trait: Platelet count — — Pearson correlation coefficent (r): 0.35 — —
PPM001776 PGS000179
(mpv)
 PSS000911|
Greater Middle Eastern Ancestry|
13,989 individuals
 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|
Greater Middle Eastern Ancestry|
13,989 individuals
 PGP000147 |
Thareja G et al. Nat Commun (2021)
|Ext.		 Reported Trait: Height — — Pearson correlation coefficent (r): 0.15 — —
PPM001769 PGS000027
(GPS_BMI)
 PSS000911|
Greater Middle Eastern Ancestry|
13,989 individuals
 PGP000147 |
Thareja G et al. Nat Commun (2021)
|Ext.		 Reported Trait: Body mass index — — Pearson correlation coefficent (r): 0.22 — —
PPM001770 PGS000191
(wbc)
 PSS000911|
Greater Middle Eastern Ancestry|
13,989 individuals
 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|
Greater Middle Eastern Ancestry|
13,989 individuals
 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|
Greater Middle Eastern Ancestry|
13,989 individuals
 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|
Greater Middle Eastern Ancestry|
13,989 individuals
 PGP000147 |
Thareja G et al. Nat Commun (2021)
|Ext.		 Reported Trait: Mean corpuscular hemoglobin — — Pearson correlation coefficent (r): 0.22 — —
PPM001774 PGS000176
(mcv)
 PSS000911|
Greater Middle Eastern Ancestry|
13,989 individuals
 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) 		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 —