PGS Publication: PGP000364

Publication Information (EuropePMC)
Title Systematic comparison of family history and polygenic risk across 24 common diseases.
PubMed ID 36347255(Europe PMC)
doi 10.1016/j.ajhg.2022.10.009
Publication Date Nov. 7, 2022
Journal Am J Hum Genet
Author(s) Mars N, Lindbohm JV, della Briotta Parolo P, Widén E, Kaprio J, Palotie A, FinnGen, Ripatti S.
Released in PGS Catalog: Nov. 7, 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:
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

PGS Developed 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)
PGS002752
(Drinks_per_week_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Alcohol consumption (drinks per week) alcohol consumption measurement 1,089,551
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002752/ScoringFiles/PGS002752.txt.gz
PGS002755
(Atopic_dermatitis_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Atopic dermatitis atopic eczema 1,090,702
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002755/ScoringFiles/PGS002755.txt.gz
PGS002761
(Glaucoma_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Glaucoma glaucoma 1,082,518
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002761/ScoringFiles/PGS002761.txt.gz
PGS002753
(Alzheimer_s_disease_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Alzheimer's disease Alzheimer disease 1,092,011
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002753/ScoringFiles/PGS002753.txt.gz
PGS002762
(Urate_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Gout gout 1,092,214
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002762/ScoringFiles/PGS002762.txt.gz
PGS002770
(Stroke_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Stroke stroke 1,088,719
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002770/ScoringFiles/PGS002770.txt.gz
PGS002769
(Rheumatoid_arthritis_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Seropositive rheumatoid arthritis rheumatoid arthritis 1,083,565
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002769/ScoringFiles/PGS002769.txt.gz
PGS002772
(Venous_thromboembolism_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Venous thromboembolism venous thromboembolism 1,052,790
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002772/ScoringFiles/PGS002772.txt.gz
PGS002754
(Asthma_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Asthma asthma 668,286
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002754/ScoringFiles/PGS002754.txt.gz
PGS002757
(eGFR_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Chronic kidney disease chronic kidney disease 1,090,783
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002757/ScoringFiles/PGS002757.txt.gz
PGS002764
(LDL_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Hypercholesterolemia Hypercholesterolemia 1,091,280
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002764/ScoringFiles/PGS002764.txt.gz
PGS002771
(Type_2_diabetes_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Type 2 diabetes (T2D) type 2 diabetes mellitus 1,091,608
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002771/ScoringFiles/PGS002771.txt.gz
PGS002758
(Colorectal_cancer_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Colorectal cancer colorectal cancer 1,087,843
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002758/ScoringFiles/PGS002758.txt.gz
PGS002759
(Depression_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Depression major depressive disorder 1,091,613
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002759/ScoringFiles/PGS002759.txt.gz
PGS002760
(Generalised_epilepsy_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Epilepsy epilepsy 835,537
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002760/ScoringFiles/PGS002760.txt.gz
PGS002763
(Hip_osteoarthritis_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Hip osteoarthritis osteoarthritis, hip 1,052,273
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002763/ScoringFiles/PGS002763.txt.gz
PGS002765
(SBP_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Hypertension hypertension 1,077,894
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002765/ScoringFiles/PGS002765.txt.gz
PGS002766
(Hypothyroidism_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Hypothyroidism hypothyroidism 1,092,122
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002766/ScoringFiles/PGS002766.txt.gz
PGS002756
(Atrial_fibrillation_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Atrial fibrillation atrial fibrillation 1,091,491
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002756/ScoringFiles/PGS002756.txt.gz
PGS002767
(Knee_osteoarthritis_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Knee osteoarthritis osteoarthritis, knee 1,052,275
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002767/ScoringFiles/PGS002767.txt.gz
PGS002768
(BMD_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Osteoporosis osteoporosis,
heel bone mineral density		 1,091,549
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002768/ScoringFiles/PGS002768.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
PPM014953 PGS002753
(Alzheimer_s_disease_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Alzheimer's disease OR: 1.64 [1.5, 1.79] — — age, sex, 10 PCs, technical covariates —
PPM014954 PGS002754
(Asthma_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Asthma OR: 1.43 [1.39, 1.48] — — age, sex, 10 PCs, technical covariates —
PPM014962 PGS002762
(Urate_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Gout OR: 1.69 [1.6, 1.78] — — age, sex, 10 PCs, technical covariates —
PPM014955 PGS002755
(Atopic_dermatitis_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Atopic dermatitis OR: 1.28 [1.21, 1.34] — — age, sex, 10 PCs, technical covariates —
PPM014956 PGS002756
(Atrial_fibrillation_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Atrial fibrillation OR: 1.87 [1.79, 1.96] — — age, sex, 10 PCs, technical covariates —
PPM014957 PGS002757
(eGFR_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Chronic kidney disease OR: 1.15 [1.05, 1.26] — — age, sex, 10 PCs, technical covariates —
PPM014959 PGS002759
(Depression_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Depression OR: 1.26 [1.22, 1.3] — — age, sex, 10 PCs, technical covariates —
PPM014960 PGS002760
(Generalised_epilepsy_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Epilepsy OR: 1.12 [1.05, 1.2] — — age, sex, 10 PCs, technical covariates —
PPM014961 PGS002761
(Glaucoma_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Glaucoma OR: 1.68 [1.59, 1.78] — — age, sex, 10 PCs, technical covariates —
PPM014970 PGS002770
(Stroke_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Stroke OR: 1.15 [1.08, 1.22] — — age, sex, 10 PCs, technical covariates —
PPM014963 PGS002763
(Hip_osteoarthritis_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Hip osteoarthritis OR: 1.38 [1.31, 1.46] — — age, sex, 10 PCs, technical covariates —
PPM014964 PGS002764
(LDL_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Hypercholesterolemia OR: 1.72 [1.67, 1.77] — — age, sex, 10 PCs, technical covariates —
PPM014965 PGS002765
(SBP_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Hypertension OR: 1.57 [1.51, 1.62] — — age, sex, 10 PCs, technical covariates —
PPM014966 PGS002766
(Hypothyroidism_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Hypothyroidism OR: 1.47 [1.43, 1.52] — — age, sex, 10 PCs, technical covariates —
PPM014967 PGS002767
(Knee_osteoarthritis_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Knee osteoarthritis OR: 1.35 [1.3, 1.4] — — age, sex, 10 PCs, technical covariates —
PPM014968 PGS002768
(BMD_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Osteoporosis OR: 1.31 [1.25, 1.38] — — age, sex, 10 PCs, technical covariates —
PPM014971 PGS002771
(Type_2_diabetes_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Type 2 diabetes OR: 1.88 [1.82, 1.95] — — age, sex, 10 PCs, technical covariates —
PPM014972 PGS002772
(Venous_thromboembolism_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Venous thromboembolism OR: 1.41 [1.34, 1.48] — — age, sex, 10 PCs, technical covariates —
PPM014952 PGS002752
(Drinks_per_week_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Alcohol consumption (drinks per week) OR: 1.19 [1.14, 1.25] — — age, sex, 10 PCs, technical covariates —
PPM014958 PGS002758
(Colorectal_cancer_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Colorectal cancer OR: 1.61 [1.46, 1.77] — — age, sex, 10 PCs, technical covariates —
PPM014969 PGS002769
(Rheumatoid_arthritis_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Seropositive rheumatoid arthritis OR: 1.72 [1.61, 1.83] — — age, sex, 10 PCs, technical covariates —

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
PSS009939 — — 39,444 individuals — European
(Finnish)		 — FinnGen —