Trait: hemoglobin measurement

Experimental Factor Ontology (EFO) Information
Identifier EFO_0004509
Description
  • hemoglobin levels
  • Hemoglobin measurement is a measure of the quantity of the metallo protein hemoglobin in blood often used in the diagnosis of anaemia.
Trait category
Hematological measurement
Synonyms 3 synonyms
  • Hb
  • haemoglobin measurement
  • hemoglobin count
Mapped term(s) NCIt:C64848
Child trait(s) 2 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 all PGS for "hemoglobin measurement" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution PGS Scoring File (FTP Link)
PGS000093
(hgb)
PGP000051 |
Xu Y et al. bioRxiv (2020)
|Pre
Hemoglobin concentration hemoglobin measurement 532
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000093/ScoringFiles/PGS000093.txt.gz
PGS000100
(mchc)
PGP000051 |
Xu Y et al. bioRxiv (2020)
|Pre
Mean corpuscular hemoglobin concentration mean corpuscular hemoglobin concentration 252
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000100/ScoringFiles/PGS000100.txt.gz
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
PGS000168
(hgb)
PGP000078 |
Vuckovic D et al. Cell (2020)
Hemoglobin concentration hemoglobin measurement 515
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000168/ScoringFiles/PGS000168.txt.gz
PGS000175
(mchc)
PGP000078 |
Vuckovic D et al. Cell (2020)
Mean corpuscular hemoglobin concentration mean corpuscular hemoglobin concentration 224
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000175/ScoringFiles/PGS000175.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

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
PPM001778 PGS000168
(hgb)
PSS000911|
Greater Middle Eastern Ancestry|
13,989 individuals
PGP000147 |
Thareja G et al. Nat Commun (2021)
|Ext.
Reported Trait: Hemoglobin Pearson correlation coefficent (r): 0.14
PPM000218 PGS000093
(hgb)
PSS000158|
European Ancestry|
81,548 individuals
PGP000051 |
Xu Y et al. bioRxiv (2020)
|Pre
Reported Trait: Hemoglobin concentration Pearson correlation coefficent (r): 0.3425 age, sex, 10 PCs of ancestry, lifestyle factors (diet, smoking, alcohol consumption), technical covariates (the time between venepuncture and full blood cell analysis, seasonal effects, centre of sample collection, time dependent drift of equipment, systematic differences in equipment) UKB Testing Set - these samples were held out from Score Development (regression training) but overlap with the samples used for variant selection (GWAS)
PPM000232 PGS000100
(mchc)
PSS000165|
European Ancestry|
81,570 individuals
PGP000051 |
Xu Y et al. bioRxiv (2020)
|Pre
Reported Trait: Mean corpuscular hemoglobin concentration Pearson correlation coefficent (r): 0.2755 age, sex, 10 PCs of ancestry, lifestyle factors (diet, smoking, alcohol consumption), technical covariates (the time between venepuncture and full blood cell analysis, seasonal effects, centre of sample collection, time dependent drift of equipment, systematic differences in equipment) UKB Testing Set - these samples were held out from Score Development (regression training) but overlap with the samples used for variant selection (GWAS)
PPM000412 PGS000132
(GS-G-EAS)
PSS000235|
East Asian Ancestry|
5,073 individuals
PGP000064 |
Wheeler E et al. PLoS Med (2017)
Reported Trait: Incident type 2 diabetes OR: 1.05 [1.02, 1.07] age, sex
PPM000411 PGS000131
(GS-G-AFR)
PSS000234|
African Ancestry|
1,906 individuals
PGP000064 |
Wheeler E et al. PLoS Med (2017)
Reported Trait: Incident type 2 diabetes OR: 1.0 [0.95, 1.05] age, sex
PPM000410 PGS000130
(GS-G-EUR)
PSS000236|
European Ancestry|
37,357 individuals
PGP000064 |
Wheeler E et al. PLoS Med (2017)
Reported Trait: Incident type 2 diabetes OR: 1.05 [1.04, 1.06] age, sex
PPM000409 PGS000129
(GS-E-EAS)
PSS000235|
East Asian Ancestry|
5,073 individuals
PGP000064 |
Wheeler E et al. PLoS Med (2017)
Reported Trait: Incident type 2 diabetes OR: 1.02 [0.99, 1.05] age, sex
PPM000408 PGS000128
(GS-E-AFR)
PSS000234|
African Ancestry|
1,906 individuals
PGP000064 |
Wheeler E et al. PLoS Med (2017)
Reported Trait: Incident type 2 diabetes OR: 0.98 [0.96, 1.0] age, sex
PPM000407 PGS000127
(GS-E-EUR)
PSS000236|
European Ancestry|
37,357 individuals
PGP000064 |
Wheeler E et al. PLoS Med (2017)
Reported Trait: Incident type 2 diabetes OR: 1.0 [0.99, 1.01] age, sex
PPM000219 PGS000093
(hgb)
PSS000132|
European Ancestry|
40,329 individuals
PGP000051 |
Xu Y et al. bioRxiv (2020)
|Pre
Reported Trait: Hemoglobin concentration Pearson correlation coefficent (r): 0.2567 age, sex, 10 PCs of ancestry, lifestyle factors (diet, smoking, alcohol consumption), technical covariates (the time between venepuncture and full blood cell analysis, seasonal effects, centre of sample collection, time dependent drift of equipment, systematic differences in equipment)
PPM000233 PGS000100
(mchc)
PSS000139|
European Ancestry|
40,265 individuals
PGP000051 |
Xu Y et al. bioRxiv (2020)
|Pre
Reported Trait: Mean corpuscular hemoglobin concentration Pearson correlation coefficent (r): 0.2642 age, sex, 10 PCs of ancestry, lifestyle factors (diet, smoking, alcohol consumption), technical covariates (the time between venepuncture and full blood cell analysis, seasonal effects, centre of sample collection, time dependent drift of equipment, systematic differences in equipment)
PPM000551 PGS000175
(mchc)
PSS000290|
European Ancestry|
2,314 individuals
PGP000078 |
Vuckovic D et al. Cell (2020)
Reported Trait: Mean corpuscular hemoglobin concentration : 0.04796 sex, age, 10 genetic PCs
PPM000549 PGS000168
(hgb)
PSS000290|
European Ancestry|
2,314 individuals
PGP000078 |
Vuckovic D et al. Cell (2020)
Reported Trait: Hemoglobin concentration : 0.0646 sex, age, 10 genetic PCs
PPM000531 PGS000175
(mchc)
PSS000291|
European Ancestry|
39,260 individuals
PGP000078 |
Vuckovic D et al. Cell (2020)
Reported Trait: Mean corpuscular hemoglobin concentration : 0.05159 sex, age, 10 genetic PCs
PPM000524 PGS000168
(hgb)
PSS000291|
European Ancestry|
39,260 individuals
PGP000078 |
Vuckovic D et al. Cell (2020)
Reported Trait: Hemoglobin concentration : 0.05697 sex, age, 10 genetic PCs
PPM000774 PGS000304
(GRS43_HbA1c)
PSS000376|
European Ancestry|
1,354 individuals
PGP000092 |
Xie T et al. Circ Genom Precis Med (2020)
Reported Trait: HbA1c (%) : 0.0283 Sex, age, age^2
PPM000803 PGS000304
(GRS43_HbA1c)
PSS000371|
European Ancestry|
288 individuals
PGP000092 |
Xie T et al. Circ Genom Precis Med (2020)
Reported Trait: HbA1c (%) : 0.0277 Sex, age, age^2
PPM001413 PGS000685
(snpnet.Glycated_haemoglobin_HbA1c)
PSS000704|
African Ancestry|
4,847 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: HbA1c [mmol/mol] : 0.07974
Spearman's ρ: 0.132
Age, sex, PCs(1-40)
PPM001772 PGS000175
(mchc)
PSS000911|
Greater Middle Eastern Ancestry|
13,989 individuals
PGP000147 |
Thareja G et al. Nat Commun (2021)
|Ext.
Reported Trait: Mean cell hemoglobin concentration Pearson correlation coefficent (r): 0.12
PPM001448 PGS000685
(snpnet.Glycated_haemoglobin_HbA1c)
PSS000705|
East Asian Ancestry|
1,032 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (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|
European Ancestry|
22,518 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (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|
South Asian Ancestry|
6,895 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (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|
European Ancestry|
60,920 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (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|
European Ancestry|
1,995 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: HbA1c [mmol/mol] Spearman's ρ: 0.217 Age, sex

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
PSS000132 40,329 individuals,
49.0 % Male samples
Mean = 43.84 years
Range = [18.0, 76.4] years
European INTERVAL
PSS000165 81,570 individuals,
46.0 % Male samples
Mean = 57.27 years
Range = [39.98, 70.7] years
European UKB
PSS000290 2,314 individuals European
(French Canadian)
CARTaGENE
PSS000139 40,265 individuals,
50.0 % Male samples
Mean = 43.83 years
Range = [18.0, 76.4] years
European INTERVAL
PSS000291 39,260 individuals European INTERVAL
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
PSS000911 13,989 individuals Greater Middle Eastern (Middle Eastern, North African or Persian)
(Qatari)
QBB
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
PSS000158 81,548 individuals,
46.0 % Male samples
Mean = 57.23 years
Range = [40.16, 72.91] years
European UKB
PSS000706 22,518 individuals European Non-British White UKB
PSS000707 6,895 individuals South Asian UKB
PSS000708 60,920 individuals European
(British)
UKB
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