Trait: HbA1c measurement

Experimental Factor Ontology (EFO) Information
Identifier EFO_0004541
Description
  • A quantification of glycated A1c hemoglobin in blood used as an index for blood glucose level over several months.
Trait category
Hematological measurement
Synonyms 10 synonyms
  • A1C measurement
  • A1c measurement
  • Glycosylated Hemoglobin
  • Glycosylated Hemoglobin Measurement
  • HBA1C
  • HbA1c levels
  • Hemoglobin A1C
  • glycated hemoglobin levels
  • glycosylated Haemoglobin A level
  • glycosylated Hemoglobin A level
Mapped term(s) NCIt:C64849

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000127 GS-E-EUR PGP000064 Wheeler E et al. PLoS Med (2017) Hemoglobin A1c HbA1c measurement 21 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000127/ScoringFiles/PGS000127.txt.gz
PGS000128 GS-E-AFR PGP000064 Wheeler E et al. PLoS Med (2017) Hemoglobin A1c HbA1c measurement 22 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000128/ScoringFiles/PGS000128.txt.gz
PGS000129 GS-E-EAS PGP000064 Wheeler E et al. PLoS Med (2017) Hemoglobin A1c HbA1c measurement 17 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000129/ScoringFiles/PGS000129.txt.gz
PGS000130 GS-G-EUR PGP000064 Wheeler E et al. PLoS Med (2017) Hemoglobin A1c HbA1c measurement 19 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000130/ScoringFiles/PGS000130.txt.gz
PGS000131 GS-G-AFR PGP000064 Wheeler E et al. PLoS Med (2017) Hemoglobin A1c HbA1c measurement 19 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000131/ScoringFiles/PGS000131.txt.gz
PGS000132 GS-G-EAS PGP000064 Wheeler E et al. PLoS Med (2017) Hemoglobin A1c HbA1c measurement 19 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000132/ScoringFiles/PGS000132.txt.gz
PGS000304 GRS43_HbA1c PGP000092 Xie T et al. Circ Genom Precis Med (2020) HbA1c HbA1c measurement 43 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000304/ScoringFiles/PGS000304.txt.gz
PGS000685 snpnet.Glycated_haemoglobin_HbA1c PGP000128 Sinnott-Armstrong N et al. Nat Genet (2021) HbA1c [mmol/mol] HbA1c measurement 14,658 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000685/ScoringFiles/PGS000685.txt.gz - Check Terms/Licenses

PGS 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 ID)
Evaluated Score PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000412 PGS000132
(GS-G-EAS)
PSS000235 PGP000064 Wheeler E et al. (2017) Reported Trait: Incident type 2 diabetes OR: 1.05 [1.02, 1.07] age, sex
PPM000411 PGS000131
(GS-G-AFR)
PSS000234 PGP000064 Wheeler E et al. (2017) Reported Trait: Incident type 2 diabetes OR: 1.0 [0.95, 1.05] age, sex
PPM000410 PGS000130
(GS-G-EUR)
PSS000236 PGP000064 Wheeler E et al. (2017) Reported Trait: Incident type 2 diabetes OR: 1.05 [1.04, 1.06] age, sex
PPM000409 PGS000129
(GS-E-EAS)
PSS000235 PGP000064 Wheeler E et al. (2017) Reported Trait: Incident type 2 diabetes OR: 1.02 [0.99, 1.05] age, sex
PPM000408 PGS000128
(GS-E-AFR)
PSS000234 PGP000064 Wheeler E et al. (2017) Reported Trait: Incident type 2 diabetes OR: 0.98 [0.96, 1.0] age, sex
PPM000407 PGS000127
(GS-E-EUR)
PSS000236 PGP000064 Wheeler E et al. (2017) Reported Trait: Incident type 2 diabetes OR: 1.0 [0.99, 1.01] age, sex
PPM000774 PGS000304
(GRS43_HbA1c)
PSS000376 PGP000092 Xie T et al. (2020) Reported Trait: HbA1c (%) : 0.0283 Sex, age, age^2
PPM000803 PGS000304
(GRS43_HbA1c)
PSS000371 PGP000092 Xie T et al. (2020) Reported Trait: HbA1c (%) : 0.0277 Sex, age, age^2
PPM001413 PGS000685
(snpnet.Glycated_haemoglobin_HbA1c)
PSS000704 PGP000128 Sinnott-Armstrong N et al. (2021) Reported Trait: HbA1c [mmol/mol] : 0.07974
Spearman's ρ: 0.132
Age, sex, PCs(1-40)
PPM001448 PGS000685
(snpnet.Glycated_haemoglobin_HbA1c)
PSS000705 PGP000128 Sinnott-Armstrong N et al. (2021) Reported Trait: HbA1c [mmol/mol] : 0.16979
Spearman's ρ: 0.285
Age, sex, PCs(1-40)
PPM001483 PGS000685
(snpnet.Glycated_haemoglobin_HbA1c)
PSS000706 PGP000128 Sinnott-Armstrong N et al. (2021) Reported Trait: HbA1c [mmol/mol] : 0.17335
Spearman's ρ: 0.367
Age, sex, PCs(1-40)
PPM001518 PGS000685
(snpnet.Glycated_haemoglobin_HbA1c)
PSS000707 PGP000128 Sinnott-Armstrong N et al. (2021) Reported Trait: HbA1c [mmol/mol] : 0.12743
Spearman's ρ: 0.268
Age, sex, PCs(1-40)
PPM001553 PGS000685
(snpnet.Glycated_haemoglobin_HbA1c)
PSS000708 PGP000128 Sinnott-Armstrong N et al. (2021) Reported Trait: HbA1c [mmol/mol] : 0.16381
Spearman's ρ: 0.375
Age, sex, PCs(1-40)
PPM001585 PGS000685
(snpnet.Glycated_haemoglobin_HbA1c)
PSS000817 PGP000128 Sinnott-Armstrong N et al. (2021) Reported Trait: HbA1c [mmol/mol] Spearman's ρ: 0.217 Age, sex

Evaluated Samples

PGS Sample Set ID
(PSS ID)
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
PSS000817 1,995 individuals European Participants self-identifying as white MESA
PSS000704 4,847 individuals African unspecified UKB
PSS000371 Individuals who have been referred to a child psychiatric outpatient clinic in the Northern Netherlands before the age of 11. 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). 288 individuals,
69.2 % Male samples
Mean = 15.83 years
Sd = 0.6 years
European TRAILS, TRAILSCC TRAILS Clinical Cohort
PSS000705 1,032 individuals East Asian UKB
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
PSS000234 Incident type 2 diabtes defined as fasting glucose >= 7 mmol/L, 2 hour glucose >= 11.1 mmol/L, antidiabetic medication use, or a physician diagnosis of type 2 diabetes Range = [10.0, 15.0] years
[
  • 262 cases
  • , 1,644 controls
]
,
37.93 % Male samples
Mean = 57.4 years
Sd = 7.43 years
African unspecified ARIC, MESA Partial overlap with discovery GWAS
PSS000235 Incident type 2 diabtes defined as fasting glucose >= 7 mmol/L, 2 hour glucose >= 11.1 mmol/L, antidiabetic medication use, or a physician diagnosis of type 2 diabetes Range = [10.0, 15.0] years
[
  • 2,391 cases
  • , 2,682 controls
]
,
47.45 % Male samples
Mean = 55.6 years
Sd = 7.37 years
East Asian MESA, SCHS Partial overlap with discovery GWAS
PSS000236 Incident type 2 diabtes defined as fasting glucose >= 7 mmol/L, 2 hour glucose >= 11.1 mmol/L, antidiabetic medication use, or a physician diagnosis of type 2 diabetes Range = [10.0, 15.0] years
[
  • 13,145 cases
  • , 24,212 controls
]
,
43.47 % Male samples
Mean = 54.63 years
Sd = 8.27 years
European ARIC, FHS, InterAct, MESA Partial overlap with discovery GWAS
PSS000706 22,518 individuals European Non-British White UKB
PSS000707 6,895 individuals South Asian UKB
PSS000708 60,920 individuals European
(British)
UKB