Trait: insulin measurement

Experimental Factor Ontology (EFO) Information
Identifier EFO_0004467
Description An insulin measurement is a measure of insulin typically performed in the diagnosis of patients
Trait category
Other measurement
Synonym insulin level
Child trait(s) 7 child traits

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
Note: This table shows PGS for child terms of "insulin measurement" in the EFO hierarchy.
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)
PGS000308
(GRS12_FIadjBMI)
 PGP000092 |
Xie T et al. Circ Genom Precis Med (2020)
 Fasting insulin (body mass index adjusted) BMI-adjusted fasting blood insulin measurement 12
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000308/ScoringFiles/PGS000308.txt.gz
PGS000834
(CIR)
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Corrected insulin response (at 30mins during OGTT) insulin response measurement 220
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000834/ScoringFiles/PGS000834.txt.gz
PGS000837
(ISI)
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Insulin sensitivity index insulin sensitivity measurement 219
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000837/ScoringFiles/PGS000837.txt.gz
PGS000840
(Fasting_Proinsulin)
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Fasting Proinsulin proinsulin measurement 223
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000840/ScoringFiles/PGS000840.txt.gz
PGS001117
(GBE_BIN_FC10002986)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Started insulin within one year diagnosis of diabetes insulin use measurement 68
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001117/ScoringFiles/PGS001117.txt.gz
PGS003469
(LDPred2_HOMA_B)
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 HOMA-B HOMA-B 775,825
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003469/ScoringFiles/PGS003469.txt.gz
PGS003470
(LDPred2_HOMA_IR)
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 HOMA-IR HOMA-IR 775,999
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003470/ScoringFiles/PGS003470.txt.gz
PGS005276
(FI_PS_EUR)
 PGP000750 |
Sarnowski C et al. Commun Biol (2025)
 Fasting insulin adjusted for BMI BMI-adjusted fasting blood insulin measurement 1,116,555
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005276/ScoringFiles/PGS005276.txt.gz
PGS005277
(FI_PS_AFR)
 PGP000750 |
Sarnowski C et al. Commun Biol (2025)
 Fasting insulin adjusted for BMI BMI-adjusted fasting blood insulin measurement 1,233,791
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005277/ScoringFiles/PGS005277.txt.gz
PGS005278
(FI_PS_AMR)
 PGP000750 |
Sarnowski C et al. Commun Biol (2025)
 Fasting insulin adjusted for BMI BMI-adjusted fasting blood insulin measurement 1,182,208
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005278/ScoringFiles/PGS005278.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
PPM000778 PGS000308
(GRS12_FIadjBMI)
 PSS000376|
European Ancestry|
1,354 individuals
 PGP000092 |
Xie T et al. Circ Genom Precis Med (2020)
 Reported Trait: Fasting insulin (mU/I) — — R²: 0.0069 Sex, age, BMI —
PPM002253 PGS000834
(CIR)
 PSS001086|
European Ancestry|
3,194 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Severe Autoimmune Diabetes OR: 0.98 [0.89, 1.08] — — PC1-10 —
PPM002254 PGS000834
(CIR)
 PSS001087|
European Ancestry|
3,930 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Severe Insulin-Deficient Diabetes OR: 0.76 [0.71, 0.82] — — PC1-10 —
PPM002255 PGS000834
(CIR)
 PSS001088|
European Ancestry|
3,869 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Severe Insulin-Resistant Diabetes OR: 1.02 [0.95, 1.09] — — PC1-10 —
PPM002256 PGS000834
(CIR)
 PSS001085|
European Ancestry|
4,116 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Moderate Obesity-related Diabetes OR: 0.79 [0.74, 0.85] — — PC1-10 —
PPM002257 PGS000834
(CIR)
 PSS001084|
European Ancestry|
5,597 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Moderate Age-Related Diabetes OR: 0.82 [0.77, 0.86] — — PC1-10 —
PPM020169 PGS000834
(CIR)
 PSS011301|
South Asian Ancestry|
1,282 individuals
 PGP000525 |
Yajnik CS et al. Lancet Reg Health Southeast Asia (2023)
|Ext.		 Reported Trait: Type 2 diabetes OR: 0.72 [0.6, 0.85] — — age, sex and BMI —
PPM020189 PGS000834
(CIR)
 PSS011302|
South Asian Ancestry|
830 individuals
 PGP000525 |
Yajnik CS et al. Lancet Reg Health Southeast Asia (2023)
|Ext.		 Reported Trait: Severe insulin deficiency diabetes OR: 0.86 [0.75, 0.99] — — sex —
PPM020198 PGS000834
(CIR)
 PSS011303|
South Asian Ancestry|
729 individuals
 PGP000525 |
Yajnik CS et al. Lancet Reg Health Southeast Asia (2023)
|Ext.		 Reported Trait: Mild obesity-related diabetes OR: 0.85 [0.73, 1.0] — — sex —
PPM002268 PGS000837
(ISI)
 PSS001086|
European Ancestry|
3,194 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Severe Autoimmune Diabetes OR: 0.92 [0.83, 1.01] — — PC1-10 —
PPM002269 PGS000837
(ISI)
 PSS001087|
European Ancestry|
3,930 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Severe Insulin-Deficient Diabetes OR: 0.93 [0.86, 0.99] — — PC1-10 —
PPM002270 PGS000837
(ISI)
 PSS001088|
European Ancestry|
3,869 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Severe Insulin-Resistant Diabetes OR: 0.84 [0.79, 0.91] — — PC1-10 —
PPM002271 PGS000837
(ISI)
 PSS001085|
European Ancestry|
4,116 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Moderate Obesity-related Diabetes OR: 0.88 [0.82, 0.94] — — PC1-10 —
PPM002272 PGS000837
(ISI)
 PSS001084|
European Ancestry|
5,597 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Moderate Age-Related Diabetes OR: 0.95 [0.9, 1.0] — — PC1-10 —
PPM020179 PGS000837
(ISI)
 PSS011301|
South Asian Ancestry|
1,282 individuals
 PGP000525 |
Yajnik CS et al. Lancet Reg Health Southeast Asia (2023)
|Ext.		 Reported Trait: HOMA2IR β: -0.09902 (0.047574) — — — —
PPM002283 PGS000840
(Fasting_Proinsulin)
 PSS001086|
European Ancestry|
3,194 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Severe Autoimmune Diabetes OR: 0.91 [0.82, 1.01] — — PC1-10 —
PPM002285 PGS000840
(Fasting_Proinsulin)
 PSS001088|
European Ancestry|
3,869 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Severe Insulin-Resistant Diabetes OR: 1.04 [0.97, 1.11] — — PC1-10 —
PPM002286 PGS000840
(Fasting_Proinsulin)
 PSS001085|
European Ancestry|
4,116 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Moderate Obesity-related Diabetes OR: 1.06 [1.0, 1.14] — — PC1-10 —
PPM002287 PGS000840
(Fasting_Proinsulin)
 PSS001084|
European Ancestry|
5,597 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Moderate Age-Related Diabetes OR: 1.07 [1.01, 1.12] — — PC1-10 —
PPM002284 PGS000840
(Fasting_Proinsulin)
 PSS001087|
European Ancestry|
3,930 individuals
 PGP000211 |
Aly DM et al. Nat Genet (2021)
 Reported Trait: Severe Insulin-Deficient Diabetes OR: 1.11 [1.04, 1.19] — — PC1-10 —
PPM008323 PGS001117
(GBE_BIN_FC10002986)
 PSS003731|
African Ancestry|
705 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Started insulin within one year diagnosis of diabetes — AUROC: 0.6057 [0.54935, 0.66205] R²: 0.03335
Incremental AUROC (full-covars): 0.01803
PGS R2 (no covariates): 0.00453
PGS AUROC (no covariates): 0.54401 [0.48567, 0.60235]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008324 PGS001117
(GBE_BIN_FC10002986)
 PSS003732|
East Asian Ancestry|
86 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Started insulin within one year diagnosis of diabetes — AUROC: 0.71573 [0.51412, 0.91734] R²: 0.15018
Incremental AUROC (full-covars): -0.09668
PGS R2 (no covariates): 0.11116
PGS AUROC (no covariates): 0.29582 [0.14557, 0.44606]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008325 PGS001117
(GBE_BIN_FC10002986)
 PSS003733|
European Ancestry|
1,089 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Started insulin within one year diagnosis of diabetes — AUROC: 0.80203 [0.75876, 0.8453] R²: 0.28861
Incremental AUROC (full-covars): 0.05722
PGS R2 (no covariates): 0.17586
PGS AUROC (no covariates): 0.72657 [0.67703, 0.77611]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008326 PGS001117
(GBE_BIN_FC10002986)
 PSS003734|
South Asian Ancestry|
1,358 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Started insulin within one year diagnosis of diabetes — AUROC: 0.62878 [0.57833, 0.67923] R²: 0.03294
Incremental AUROC (full-covars): 0.02324
PGS R2 (no covariates): 0.01621
PGS AUROC (no covariates): 0.58662 [0.53076, 0.64248]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008327 PGS001117
(GBE_BIN_FC10002986)
 PSS003735|
European Ancestry|
3,243 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Started insulin within one year diagnosis of diabetes — AUROC: 0.74056 [0.71173, 0.76938] R²: 0.17764
Incremental AUROC (full-covars): 0.0941
PGS R2 (no covariates): 0.12982
PGS AUROC (no covariates): 0.71086 [0.68153, 0.74018]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM017280 PGS003469
(LDPred2_HOMA_B)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Respiratory event index β: 0.002 (0.01) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017303 PGS003469
(LDPred2_HOMA_B)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Obstructive sleep apnea β: 0.023 (0.024) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017348 PGS003469
(LDPred2_HOMA_B)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Respiratory event index in obsese β: 0.025 (0.017) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017368 PGS003469
(LDPred2_HOMA_B)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Obstructive sleep apnea in obsese β: 0.049 (0.034) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017369 PGS003469
(LDPred2_HOMA_B)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Obstructive sleep apnea in non-obsese β: -0.007 (0.035) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017396 PGS003469
(LDPred2_HOMA_B)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Respiratory event index x obesity interaction β: 0.041 (1.042) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017349 PGS003469
(LDPred2_HOMA_B)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Respiratory event index in non-obsese β: -0.016 (0.012) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017406 PGS003469
(LDPred2_HOMA_B)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Obstructive sleep apnea x obesity interaction β: 1.041 (0.049) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017281 PGS003470
(LDPred2_HOMA_IR)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Respiratory event index β: 0.003 (0.011) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM017304 PGS003470
(LDPred2_HOMA_IR)
 PSS010185|
Hispanic or Latin American Ancestry|
1,115 individuals
 PGP000456 |
Zhang Y et al. EBioMedicine (2022)
 Reported Trait: Obstructive sleep apnea β: 0.006 (0.025) — — Age, sex, center, 5 genetic PCs, Hispanic/Latino background, BMI —
PPM022760 PGS005276
(FI_PS_EUR)
 PSS012072|
European Ancestry|
13,712 individuals
 PGP000750 |
Sarnowski C et al. Commun Biol (2025)
 Reported Trait: Homeostasis Model Assessment for Insulin Resistance [HOMA-IR] β: 0.237 — R²: 0.1076 age, sex, study, BMI, and the first 11 genetic principal components Score was standardized
PPM022761 PGS005277
(FI_PS_AFR)
 PSS012073|
African Ancestry|
4,695 individuals
 PGP000750 |
Sarnowski C et al. Commun Biol (2025)
 Reported Trait: Homeostasis Model Assessment for Insulin Resistance [HOMA-IR] β: 0.129 — R²: 0.0172 age, sex, study, BMI, and the first 11 genetic principal components Score was standardized
PPM022762 PGS005278
(FI_PS_AMR)
 PSS012074|
Hispanic or Latin American Ancestry|
1,693 individuals
 PGP000750 |
Sarnowski C et al. Commun Biol (2025)
 Reported Trait: Homeostasis Model Assessment for Insulin Resistance [HOMA-IR] β: 0.033 — R²: 0.0028 age, sex, study, BMI, and the first 11 genetic principal components Score was standardized

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
PSS012073 — — 4,695 individuals — African American or Afro-Caribbean — TOPMed —
PSS012074 — — 1,693 individuals — Hispanic or Latin American — TOPMed —
PSS003731 — —
[
  • 115 cases
  • , 590 controls
]
 — African unspecified — UKB —
PSS003732 — —
[
  • 9 cases
  • , 77 controls
]
 — East Asian — UKB —
PSS003735 — —
[
  • 397 cases
  • , 2,846 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS003733 — —
[
  • 143 cases
  • , 946 controls
]
 — European non-white British ancestry UKB —
PSS011301 — —
[
  • 821 cases
  • , 461 controls
]
 — South Asian
(Indian)		 — WellGen —
PSS000376 We measured weight and height using regularly calibrated equipment (scales and stadiometer models 770 and 214, respectively; Seca, Hamburg, Germany). Body mass index (BMI; in kg/m2) was also calculated. We measured waist circumference at the midpoint between the lower costal margin and the iliac crest. The hip circumference was measured over both trochanter majores (tangible bone on the outside of the hip joint). Waist to hip ratio was also calculated. We performed all measurements in duplicate, and, if the difference between these measurements exceeded a predefined value, a third measurement was performed. All available measurements were used to calculate means. Heart rate, systolic (SBP) and diastolic (DBP) blood pressure were measured in duplicate with a Dinamap Critikon 1846SX (Critikon Inc, Tampa, FL), from which we calculated means. At the third visit, fasting blood sample of participants were drawn for the measurement of glucose (Roche Diagnostics, Basel, Switzerland), insulin (Diagnostic Systems Laboratories Inc, Webster, TX), HbA1c (high performance liquid chromatography, Variant, Bio-Rad), triglycerides, total cholesterol, HDL cholesterol (Roche Diagnostics) and LDL cholesterol (calculated according to Friedewald’s equation5), as well as alanine transaminase (Photometric determination according to the reference method of the International Federation of Clinical Chemistry (IFCC)6) and lipoprotein(a) (Nephelometric method, BN2, DadeBehring). Serum creatinine was measured by photometric determination with the Jaffé method without deproteinisation (Ecoline® MEGA, DiaSys Diagnostic Systems GmbH. Merck). eGFR for adolescents who were younger than 18 years old was calculated using the Schwartz formula.7 High‐sensitivity C‐reactive protein (hsCRP) was determined using an immunonephelometric method, BN2 (CardioPhase hsCRP, Siemens) with a lower detection limit of 0.175 mg/L. Total IgE measurements were performed using the Phadia Immunocap 100 system with fluoroenzyme immunoassay (FEIA). — 1,354 individuals,
47.56 % Male samples
 Mean = 16.22 years
Sd = 0.66 years		 European — TRAILS —
PSS011302 — —
[
  • 369 cases
  • , 461 controls
]
 — South Asian
(Indian)		 — WellGen —
PSS011303 — —
[
  • 268 cases
  • , 461 controls
]
 — South Asian
(Indian)		 — WellGen —
PSS001084 Moderate Age-Related Diabetes (MARD) vs. controls —
[
  • 2,853 cases
  • , 2,744 controls
]
 — European Swedish ANDIS —
PSS001085 Moderate Obesity-related Diabetes (MOD) vs. controls —
[
  • 1,372 cases
  • , 2,744 controls
]
 — European Swedish ANDIS —
PSS001086 Severe Autoimmune Diabetes (SAID) vs. controls —
[
  • 450 cases
  • , 2,744 controls
]
 — European Swedish ANDIS —
PSS001087 Severe Insulin-Deficient Diabetes (SIDD) vs. controls —
[
  • 1,186 cases
  • , 2,744 controls
]
 — European Swedish ANDIS —
PSS001088 Severe Insulin-Resistant Diabetes (SIRD) vs. controls —
[
  • 1,125 cases
  • , 2,744 controls
]
 — European Swedish ANDIS —
PSS003734 — —
[
  • 120 cases
  • , 1,238 controls
]
 — South Asian — UKB —
PSS010185 — — 1,115 individuals,
41.1 % Male samples
 Mean = 46.18 years Hispanic or Latin American — HCHS-SOL —
PSS012072 — — 13,712 individuals — European — TOPMed —