Polygenic Score (PGS) ID: PGS004127

Predicted Trait
Reported Trait HbA1c
Mapped Trait(s) HbA1c measurement (EFO_0004541)
Released in PGS Catalog: Dec. 19, 2023
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Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name pt_clump_nested.CV.GCST007954.HbA1c
Development Method
Name pt_clump_nested.CV
Parameters p0.000001, r2 = 0.1, window = 250kb
Variants
Original Genome Build GRCh38
Number of Variants 246
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000517
Citation (link to publication) Monti R et al. Am J Hum Genet (2024)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
88,355 individuals (100%)
Score Development/Training
European: 100%
344,209 individuals (100%)
PGS Evaluation
European: 50%
South Asian: 50%
4 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
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Study Identifiers
Sample Numbers
Sample Ancestry
Cohort(s)
GWAS Catalog: GCST007954
Europe PMC: 28898252
88,355 individualsEuropeanNR
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Score Development/Training
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Study Identifiers
Sample Numbers
Sample Ancestry
Cohort(s)
Phenotype Definitions & Methods
Age of Study Participants
Participant Follow-up Time
Additional Ancestry Description
Additional Sample/Cohort Information
—344,209 individualsEuropeanUKBdata field 30750————
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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)
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
PPM019649PSS011242|
South Asian Ancestry|
12,948 individuals
PGP000517 |
Monti R et al. Am J Hum Genet (2024)
Reported Trait: Haemoglobin A1Cβ: 0.02027 [0.00304789, 0.03749248]—R²: 0.00041 [0.00000929, 0.00140569]0beta = sd_trait/sd_pgs = pearson correlation
PPM019650PSS011258|
European Ancestry|
34,192 individuals
PGP000517 |
Monti R et al. Am J Hum Genet (2024)
Reported Trait: Haemoglobin A1Cβ: 0.13414 [0.12363329, 0.14464134]—R²: 0.01799 [0.01528519, 0.02092112]0beta = sd_trait/sd_pgs = pearson correlation
PPM019651PSS011286|
South Asian Ancestry|
8,748 individuals
PGP000517 |
Monti R et al. Am J Hum Genet (2024)
Reported Trait: Haemoglobin A1Cβ: 0.12036 [0.09955043, 0.14116111]—R²: 0.01449 [0.00991029, 0.01992646]0beta = sd_trait/sd_pgs = pearson correlation
PPM019652PSS011272|
European Ancestry|
86,050 individuals
PGP000517 |
Monti R et al. Am J Hum Genet (2024)
Reported Trait: Haemoglobin A1Cβ: 0.14619 [0.13975924, 0.15261188]—R²: 0.02258 [0.02063827, 0.02460871]0beta = sd_trait/sd_pgs = pearson correlation
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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
PSS011242——12,948 individuals—South Asian—G&H—
PSS011258——34,192 individuals—European—HUNT—
PSS011272——86,050 individuals—European—UKB—
PSS011286——8,748 individuals—South Asian—UKB—
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