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 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 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

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] — — R²: 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] — — R²: 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] — — R²: 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] — — R²: 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] — — R²: 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 — — R²: 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 — — R²: 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 — — R²: 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 — — R²: 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 — — R²: 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 — — — —

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 —
PSS009202 — — 3,933 individuals — European Poland (NE Europe) UKB —
PSS008308 — — 5,980 individuals — South Asian India (South Asia) 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 —
PSS008756 — — 6,307 individuals — European Italy (South Europe) UKB —
PSS007872 — — 2,330 individuals — African American or Afro-Caribbean Carribean UKB —