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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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)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST007954
Europe PMC: 28898252
 88,355 individuals European NR
Score Development/Training
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 individuals European UKB data field 30750 — — — —

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) 		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
PPM019649 PSS011242|
South Asian Ancestry|
12,948 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: Haemoglobin A1C β: 0.02027 [0.00304789, 0.03749248] — R²: 0.00041 [0.00000929, 0.00140569] 0 beta = sd_trait/sd_pgs = pearson correlation
PPM019650 PSS011258|
European Ancestry|
34,192 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: Haemoglobin A1C β: 0.13414 [0.12363329, 0.14464134] — R²: 0.01799 [0.01528519, 0.02092112] 0 beta = sd_trait/sd_pgs = pearson correlation
PPM019652 PSS011272|
European Ancestry|
86,050 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: Haemoglobin A1C β: 0.14619 [0.13975924, 0.15261188] — R²: 0.02258 [0.02063827, 0.02460871] 0 beta = sd_trait/sd_pgs = pearson correlation
PPM019651 PSS011286|
South Asian Ancestry|
8,748 individuals
 PGP000517 |
Monti R et al. Am J Hum Genet (2024)
 Reported Trait: Haemoglobin A1C β: 0.12036 [0.09955043, 0.14116111] — R²: 0.01449 [0.00991029, 0.01992646] 0 beta = sd_trait/sd_pgs = pearson correlation

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
PSS011258 — — 34,192 individuals — European — HUNT —
PSS011272 — — 86,050 individuals — European — UKB —
PSS011242 — — 12,948 individuals — South Asian — G&H —
PSS011286 — — 8,748 individuals — South Asian — UKB —