Trait: aspartate aminotransferase measurement

Experimental Factor Ontology (EFO) Information
Identifier EFO_0004736
Description Is a quantification of aspartate aminotransferase, and is commonly used as a marker for liver function.
Trait category
Liver enzyme measurement
Synonym Aspartate transaminase measurement
Mapped terms 2 mapped terms
  • NCIt:C64467
  • SNOMEDCT:45896001

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
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS000673
(snpnet.Aspartate_aminotransferase)
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Aspartate aminotransferase [U/L] aspartate aminotransferase measurement 12,829
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000673/ScoringFiles/PGS000673.txt.gz - Check Terms/Licenses
PGS001941
(portability-PLR_log_AST)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Aspartate aminotransferase level aspartate aminotransferase measurement 33,498
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001941/ScoringFiles/PGS001941.txt.gz
PGS002159
(portability-ldpred2_log_AST)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Aspartate aminotransferase level aspartate aminotransferase measurement 716,914
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002159/ScoringFiles/PGS002159.txt.gz
PGS003343
(CVGRS_AST)
PGP000405 |
Kim YJ et al. Nat Commun (2022)
Aspartate aminotransferase level aspartate aminotransferase measurement 54
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003343/ScoringFiles/PGS003343.txt.gz
PGS003352
(ALLGRS_AST)
PGP000405 |
Kim YJ et al. Nat Commun (2022)
Aspartate aminotransferase level aspartate aminotransferase measurement 56
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003352/ScoringFiles/PGS003352.txt.gz
PGS003523
(cont-decay-log_AST)
PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre
Aspartate aminotransferase level aspartate aminotransferase measurement 979,739
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003523/ScoringFiles/PGS003523.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
PPM001401 PGS000673
(snpnet.Aspartate_aminotransferase)
PSS000647|
African Ancestry|
5,982 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Aspartate aminotransferase [U/L] : 0.10334
Spearman's ρ: 0.103
Age, sex, PCs(1-40)
PPM001436 PGS000673
(snpnet.Aspartate_aminotransferase)
PSS000648|
East Asian Ancestry|
1,070 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Aspartate aminotransferase [U/L] : 0.08343
Spearman's ρ: 0.191
Age, sex, PCs(1-40)
PPM001506 PGS000673
(snpnet.Aspartate_aminotransferase)
PSS000650|
South Asian Ancestry|
7,313 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Aspartate aminotransferase [U/L] : 0.11262
Spearman's ρ: 0.243
Age, sex, PCs(1-40)
PPM001541 PGS000673
(snpnet.Aspartate_aminotransferase)
PSS000651|
European Ancestry|
63,562 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Aspartate aminotransferase [U/L] : 0.1493
Spearman's ρ: 0.285
Age, sex, PCs(1-40)
PPM001471 PGS000673
(snpnet.Aspartate_aminotransferase)
PSS000649|
European Ancestry|
23,483 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Aspartate aminotransferase [U/L] : 0.1564
Spearman's ρ: 0.278
Age, sex, PCs(1-40)
PPM007290 PGS000673
(snpnet.Aspartate_aminotransferase)
PSS007106|
African Ancestry|
6,063 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
|Ext.
Reported Trait: Aspartate aminotransferase : 0.03615 [0.02724, 0.04506]
Incremental R2 (full-covars): 0.00048
PGS R2 (no covariates): 0.0043 [0.00113, 0.00747]
age, sex, UKB array type, Genotype PCs
PPM007291 PGS000673
(snpnet.Aspartate_aminotransferase)
PSS007107|
East Asian Ancestry|
1,604 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
|Ext.
Reported Trait: Aspartate aminotransferase : 0.01565 [0.00398, 0.02731]
Incremental R2 (full-covars): 0.00093
PGS R2 (no covariates): 0.01452 [0.00327, 0.02577]
age, sex, UKB array type, Genotype PCs
PPM007292 PGS000673
(snpnet.Aspartate_aminotransferase)
PSS007108|
European Ancestry|
23,673 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
|Ext.
Reported Trait: Aspartate aminotransferase : 0.04146 [0.03661, 0.04631]
Incremental R2 (full-covars): 0.00197
PGS R2 (no covariates): 0.02948 [0.02534, 0.03362]
age, sex, UKB array type, Genotype PCs
PPM007293 PGS000673
(snpnet.Aspartate_aminotransferase)
PSS007109|
South Asian Ancestry|
7,402 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
|Ext.
Reported Trait: Aspartate aminotransferase : 0.03584 [0.02776, 0.04393]
Incremental R2 (full-covars): 0.00195
PGS R2 (no covariates): 0.02928 [0.02192, 0.03663]
age, sex, UKB array type, Genotype PCs
PPM007294 PGS000673
(snpnet.Aspartate_aminotransferase)
PSS007110|
European Ancestry|
64,238 individuals
PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
|Ext.
Reported Trait: Aspartate aminotransferase : 0.03244 [0.02981, 0.03507]
Incremental R2 (full-covars): 0.00218
PGS R2 (no covariates): 0.03087 [0.0283, 0.03344]
age, sex, UKB array type, Genotype PCs
PPM010403 PGS001941
(portability-PLR_log_AST)
PSS009428|
European Ancestry|
18,929 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Aspartate aminotransferase Partial Correlation (partial-r): 0.2685 [0.2552, 0.2816] sex, age, birth date, deprivation index, 16 PCs
PPM010404 PGS001941
(portability-PLR_log_AST)
PSS009202|
European Ancestry|
3,933 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Aspartate aminotransferase Partial Correlation (partial-r): 0.2451 [0.2154, 0.2743] sex, age, birth date, deprivation index, 16 PCs
PPM010405 PGS001941
(portability-PLR_log_AST)
PSS008756|
European Ancestry|
6,307 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Aspartate aminotransferase Partial Correlation (partial-r): 0.2543 [0.231, 0.2773] sex, age, birth date, deprivation index, 16 PCs
PPM010406 PGS001941
(portability-PLR_log_AST)
PSS008530|
Greater Middle Eastern Ancestry|
1,124 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Aspartate aminotransferase Partial Correlation (partial-r): 0.2157 [0.1587, 0.2713] sex, age, birth date, deprivation index, 16 PCs
PPM010407 PGS001941
(portability-PLR_log_AST)
PSS008308|
South Asian Ancestry|
5,980 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Aspartate aminotransferase Partial Correlation (partial-r): 0.2288 [0.2046, 0.2527] sex, age, birth date, deprivation index, 16 PCs
PPM010408 PGS001941
(portability-PLR_log_AST)
PSS008085|
East Asian Ancestry|
1,703 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Aspartate aminotransferase Partial Correlation (partial-r): 0.1846 [0.138, 0.2303] sex, age, birth date, deprivation index, 16 PCs
PPM010409 PGS001941
(portability-PLR_log_AST)
PSS007872|
African Ancestry|
2,330 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Aspartate aminotransferase Partial Correlation (partial-r): 0.1077 [0.0672, 0.1478] sex, age, birth date, deprivation index, 16 PCs
PPM010410 PGS001941
(portability-PLR_log_AST)
PSS008976|
African Ancestry|
3,640 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Aspartate aminotransferase Partial Correlation (partial-r): 0.0657 [0.0332, 0.098] sex, age, birth date, deprivation index, 16 PCs
PPM012119 PGS002159
(portability-ldpred2_log_AST)
PSS009428|
European Ancestry|
18,929 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Aspartate aminotransferase Partial Correlation (partial-r): 0.2679 [0.2546, 0.2811] sex, age, birth date, deprivation index, 16 PCs
PPM012120 PGS002159
(portability-ldpred2_log_AST)
PSS009202|
European Ancestry|
3,933 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Aspartate aminotransferase Partial Correlation (partial-r): 0.2333 [0.2034, 0.2627] sex, age, birth date, deprivation index, 16 PCs
PPM012121 PGS002159
(portability-ldpred2_log_AST)
PSS008756|
European Ancestry|
6,307 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Aspartate aminotransferase Partial Correlation (partial-r): 0.2564 [0.2332, 0.2794] sex, age, birth date, deprivation index, 16 PCs
PPM012122 PGS002159
(portability-ldpred2_log_AST)
PSS008530|
Greater Middle Eastern Ancestry|
1,124 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Aspartate aminotransferase Partial Correlation (partial-r): 0.2194 [0.1625, 0.2749] sex, age, birth date, deprivation index, 16 PCs
PPM012123 PGS002159
(portability-ldpred2_log_AST)
PSS008308|
South Asian Ancestry|
5,980 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Aspartate aminotransferase Partial Correlation (partial-r): 0.2225 [0.1982, 0.2465] sex, age, birth date, deprivation index, 16 PCs
PPM012125 PGS002159
(portability-ldpred2_log_AST)
PSS007872|
African Ancestry|
2,330 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Aspartate aminotransferase Partial Correlation (partial-r): 0.1083 [0.0678, 0.1484] sex, age, birth date, deprivation index, 16 PCs
PPM012126 PGS002159
(portability-ldpred2_log_AST)
PSS008976|
African Ancestry|
3,640 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Aspartate aminotransferase Partial Correlation (partial-r): 0.0633 [0.0308, 0.0957] sex, age, birth date, deprivation index, 16 PCs
PPM012124 PGS002159
(portability-ldpred2_log_AST)
PSS008085|
East Asian Ancestry|
1,703 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Aspartate aminotransferase Partial Correlation (partial-r): 0.183 [0.1364, 0.2288] sex, age, birth date, deprivation index, 16 PCs
PPM016182 PGS003343
(CVGRS_AST)
PSS010055|
East Asian Ancestry|
22,608 individuals
PGP000405 |
Kim YJ et al. Nat Commun (2022)
Reported Trait: Aspartate aminotransferase level β: 0.13654
PPM016199 PGS003343
(CVGRS_AST)
PSS010055|
East Asian Ancestry|
22,608 individuals
PGP000405 |
Kim YJ et al. Nat Commun (2022)
Reported Trait: Type 2 diabetes OR: 0.99256
PPM016191 PGS003352
(ALLGRS_AST)
PSS010055|
East Asian Ancestry|
22,608 individuals
PGP000405 |
Kim YJ et al. Nat Commun (2022)
Reported Trait: Aspartate aminotransferase level β: 0.14314
PPM017451 PGS003523
(cont-decay-log_AST)
PSS010886|
European Ancestry|
19,052 individuals
PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre
Reported Trait: Aspartate aminotransferase partial-R2: 0.07 sex, age, deprivation index, PC1-16
PPM017535 PGS003523
(cont-decay-log_AST)
PSS010802|
European Ancestry|
3,922 individuals
PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre
Reported Trait: Aspartate aminotransferase partial-R2: 0.05 sex, age, deprivation index, PC1-16
PPM017703 PGS003523
(cont-decay-log_AST)
PSS010550|
Greater Middle Eastern Ancestry|
1,095 individuals
PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre
Reported Trait: Aspartate aminotransferase partial-R2: 0.06 sex, age, deprivation index, PC1-16
PPM017871 PGS003523
(cont-decay-log_AST)
PSS010466|
South Asian Ancestry|
5,926 individuals
PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre
Reported Trait: Aspartate aminotransferase partial-R2: 0.05 sex, age, deprivation index, PC1-16
PPM017955 PGS003523
(cont-decay-log_AST)
PSS010382|
East Asian Ancestry|
1,692 individuals
PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre
Reported Trait: Aspartate aminotransferase partial-R2: 0.03 sex, age, deprivation index, PC1-16
PPM018039 PGS003523
(cont-decay-log_AST)
PSS010298|
African Ancestry|
2,318 individuals
PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre
Reported Trait: Aspartate aminotransferase partial-R2: 0.01 sex, age, deprivation index, PC1-16
PPM017619 PGS003523
(cont-decay-log_AST)
PSS010634|
European Ancestry|
6,155 individuals
PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre
Reported Trait: Aspartate aminotransferase partial-R2: 0.07 sex, age, deprivation index, PC1-16
PPM017787 PGS003523
(cont-decay-log_AST)
PSS010214|
European Ancestry|
2,233 individuals
PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre
Reported Trait: Aspartate aminotransferase partial-R2: 0.09 sex, age, deprivation index, PC1-16
PPM018123 PGS003523
(cont-decay-log_AST)
PSS010718|
African Ancestry|
3,611 individuals
PGP000457 |
Ding Y et al. bioRxiv (2022)
|Pre
Reported Trait: Aspartate aminotransferase partial-R2: 0.0 sex, age, deprivation index, PC1-16

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
PSS007106 6,063 individuals African unspecified UKB
PSS007107 1,604 individuals East Asian UKB
PSS007108 23,673 individuals European non-white British ancestry UKB
PSS007109 7,402 individuals South Asian UKB
PSS007110 64,238 individuals European white British ancestry UKB Testing cohort (heldout set)
PSS008530 1,124 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB
PSS009428 18,929 individuals European UK (+ Ireland) UKB
PSS010055 22,608 individuals East Asian KBA, KoGES
PSS010802 3,922 individuals,
38.0 % Male samples
Mean = 54.4 years
Sd = 7.5 years
European Polish UKB
PSS010550 1,095 individuals,
60.0 % Male samples
Mean = 51.9 years
Sd = 7.9 years
Greater Middle Eastern (Middle Eastern, North African or Persian) Iranian UKB
PSS010298 2,318 individuals,
37.0 % Male samples
Mean = 52.5 years
Sd = 8.1 years
African American or Afro-Caribbean Caribbean UKB
PSS009202 3,933 individuals European Poland (NE Europe) UKB
PSS008308 5,980 individuals South Asian India (South Asia) UKB
PSS010718 3,611 individuals,
46.0 % Male samples
Mean = 51.9 years
Sd = 8.1 years
African unspecified Nigerian UKB
PSS010466 5,926 individuals,
54.0 % Male samples
Mean = 53.3 years
Sd = 8.4 years
South Asian Indian UKB
PSS010214 2,233 individuals,
45.0 % Male samples
Mean = 58.1 years
Sd = 7.1 years
European Ashkenazi UKB
PSS008976 3,640 individuals African unspecified Nigeria (West Africa) UKB
PSS008085 1,703 individuals East Asian China (East Asia) UKB
PSS000647 5,982 individuals African unspecified UKB
PSS000648 1,070 individuals East Asian UKB
PSS000649 23,483 individuals European Non-British White UKB
PSS000650 7,313 individuals South Asian UKB
PSS000651 63,562 individuals European
(British)
UKB
PSS010886 19,052 individuals,
46.0 % Male samples
Mean = 56.9 years
Sd = 7.9 years
European white British UKB
PSS010634 6,155 individuals,
45.0 % Male samples
Mean = 54.5 years
Sd = 8.4 years
European Italian UKB
PSS008756 6,307 individuals European Italy (South Europe) UKB
PSS010382 1,692 individuals,
34.0 % Male samples
Mean = 52.4 years
Sd = 7.8 years
East Asian Chinese UKB
PSS007872 2,330 individuals African American or Afro-Caribbean Carribean UKB