Trait: vertebral joint disorder

Trait Information
Identifier MONDO_0037847
Description A disease that involves the intervertebral joint. [MONDO: patterns/location]
Trait category
Other disease
Synonyms 6 synonyms
  • disease of intervertebral joint
  • disease or disorder of intervertebral joint
  • disorder of intervertebral joint
  • disorder of joint of spine
  • intervertebral joint disease
  • intervertebral joint disease or disorder
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 PGS for child terms of "vertebral joint disorder" 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)
PGS001267
(GBE_HC422)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Ankylosing spondylitis ankylosing spondylitis 10
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001267/ScoringFiles/PGS001267.txt.gz
PGS001268
(GBE_HC1242)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Ankylosing spondylitis (time-to-event) ankylosing spondylitis 10
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001268/ScoringFiles/PGS001268.txt.gz
PGS001876
(portability-PLR_715.2)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Ankylosing spondylitis ankylosing spondylitis 85
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001876/ScoringFiles/PGS001876.txt.gz
PGS002089
(portability-ldpred2_715.2)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Ankylosing spondylitis ankylosing spondylitis 22,026
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002089/ScoringFiles/PGS002089.txt.gz
PGS003420
(PRS100_PRScs)
 PGP000431 |
Ko CL et al. J Transl Med (2022)
 Ankylosing spondylitis ankylosing spondylitis 100
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003420/ScoringFiles/PGS003420.txt.gz
PGS003421
(PRS16_C+T)
 PGP000431 |
Ko CL et al. J Transl Med (2022)
 Ankylosing spondylitis ankylosing spondylitis 16
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003421/ScoringFiles/PGS003421.txt.gz
PGS003422
(PRS16_PRSice2)
 PGP000431 |
Ko CL et al. J Transl Med (2022)
 Ankylosing spondylitis ankylosing spondylitis 16
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003422/ScoringFiles/PGS003422.txt.gz
PGS003423
(PRS100_Lassosum)
 PGP000431 |
Ko CL et al. J Transl Med (2022)
 Ankylosing spondylitis ankylosing spondylitis 100
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003423/ScoringFiles/PGS003423.txt.gz
PGS003424
(PRS100_LDpred2)
 PGP000431 |
Ko CL et al. J Transl Med (2022)
 Ankylosing spondylitis ankylosing spondylitis 100
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003424/ScoringFiles/PGS003424.txt.gz
PGS004486
(disease.M51.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 M51 (Other intervertebral disk disorders) Intervertebral Disc Displacement 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004486/ScoringFiles/PGS004486.txt.gz
PGS004556
(meta.M51.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 M51 (Other intervertebral disk disorders) Intervertebral Disc Displacement 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004556/ScoringFiles/PGS004556.txt.gz
PGS019671
(TPMI_715.2_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Ankylosing spondylitis ankylosing spondylitis 20
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019671/ScoringFiles/PGS019671.txt.gz
PGS019672
(TPMI_715.2_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Ankylosing spondylitis ankylosing spondylitis 939,888
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019672/ScoringFiles/PGS019672.txt.gz
PGS019673
(TPMI_715.2_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Ankylosing spondylitis ankylosing spondylitis 292,554
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019673/ScoringFiles/PGS019673.txt.gz
PGS019674
(TPMI_715.2_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Ankylosing spondylitis ankylosing spondylitis 983,830
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019674/ScoringFiles/PGS019674.txt.gz
PGS019675
(TPMI_715.2_PRSmix+)
 PGP000835 |
Chen HH et al. Nature (2025)
 Ankylosing spondylitis ankylosing spondylitis 1,071,343
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019675/ScoringFiles/PGS019675.txt.gz
PGS019676
(TPMI_715.2_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Ankylosing spondylitis ankylosing spondylitis 940,059
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019676/ScoringFiles/PGS019676.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
PPM008840 PGS001267
(GBE_HC422)
 PSS004486|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Ankylosing spondylitis — AUROC: 0.86744 [0.75569, 0.97918] R²: 0.1463
Incremental AUROC (full-covars): -0.00062
PGS R2 (no covariates): 0.00216
PGS AUROC (no covariates): 0.4722 [0.12421, 0.82018]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008841 PGS001267
(GBE_HC422)
 PSS004487|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Ankylosing spondylitis — AUROC: 0.98913 [0.972, 1.0] R²: 0.44316
Incremental AUROC (full-covars): 0.0423
PGS R2 (no covariates): 0.24382
PGS AUROC (no covariates): 0.81698 [0.46329, 1.0]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008842 PGS001267
(GBE_HC422)
 PSS004488|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Ankylosing spondylitis — AUROC: 0.73638 [0.67151, 0.80124] R²: 0.10414
Incremental AUROC (full-covars): 0.06004
PGS R2 (no covariates): 0.07222
PGS AUROC (no covariates): 0.67545 [0.60736, 0.74353]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008843 PGS001267
(GBE_HC422)
 PSS004489|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Ankylosing spondylitis — AUROC: 0.73535 [0.61203, 0.85867] R²: 0.03713
Incremental AUROC (full-covars): -0.01782
PGS R2 (no covariates): 0.00902
PGS AUROC (no covariates): 0.42181 [0.29024, 0.55338]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008844 PGS001267
(GBE_HC422)
 PSS004490|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Ankylosing spondylitis — AUROC: 0.74328 [0.70673, 0.77983] R²: 0.10925
Incremental AUROC (full-covars): 0.12994
PGS R2 (no covariates): 0.09877
PGS AUROC (no covariates): 0.72651 [0.68965, 0.76337]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008845 PGS001268
(GBE_HC1242)
 PSS004228|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE ankylosing spondylitis — AUROC: 0.86811 [0.75774, 0.97849] R²: 0.14598
Incremental AUROC (full-covars): 6e-05
PGS R2 (no covariates): 0.00104
PGS AUROC (no covariates): 0.48424 [0.12443, 0.84406]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008846 PGS001268
(GBE_HC1242)
 PSS004229|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE ankylosing spondylitis — AUROC: 0.99148 [0.9789, 1.0] R²: 0.44858
Incremental AUROC (full-covars): 0.04465
PGS R2 (no covariates): 0.23755
PGS AUROC (no covariates): 0.81257 [0.45025, 1.0]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008847 PGS001268
(GBE_HC1242)
 PSS004230|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE ankylosing spondylitis — AUROC: 0.73336 [0.66901, 0.79772] R²: 0.10217
Incremental AUROC (full-covars): 0.0575
PGS R2 (no covariates): 0.06991
PGS AUROC (no covariates): 0.67405 [0.607, 0.74111]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008848 PGS001268
(GBE_HC1242)
 PSS004231|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE ankylosing spondylitis — AUROC: 0.73282 [0.61573, 0.84991] R²: 0.03979
Incremental AUROC (full-covars): -0.01963
PGS R2 (no covariates): 0.00774
PGS AUROC (no covariates): 0.4297 [0.29438, 0.56502]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008849 PGS001268
(GBE_HC1242)
 PSS004232|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE ankylosing spondylitis — AUROC: 0.74878 [0.71314, 0.78442] R²: 0.115
Incremental AUROC (full-covars): 0.12686
PGS R2 (no covariates): 0.10232
PGS AUROC (no covariates): 0.7346 [0.69884, 0.77037]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009896 PGS001876
(portability-PLR_715.2)
 PSS009353|
European Ancestry|
18,262 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ankylosing spondylitis — — Partial Correlation (partial-r): 0.0797 [0.0653, 0.0941] sex, age, birth date, deprivation index, 16 PCs —
PPM009897 PGS001876
(portability-PLR_715.2)
 PSS009127|
European Ancestry|
3,854 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ankylosing spondylitis — — Partial Correlation (partial-r): 0.0453 [0.0137, 0.0769] sex, age, birth date, deprivation index, 16 PCs —
PPM009898 PGS001876
(portability-PLR_715.2)
 PSS008681|
European Ancestry|
6,216 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ankylosing spondylitis — — Partial Correlation (partial-r): 0.0521 [0.0272, 0.0769] sex, age, birth date, deprivation index, 16 PCs —
PPM009899 PGS001876
(portability-PLR_715.2)
 PSS008455|
Greater Middle Eastern Ancestry|
1,124 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ankylosing spondylitis — — Partial Correlation (partial-r): 0.1472 [0.0889, 0.2044] sex, age, birth date, deprivation index, 16 PCs —
PPM009900 PGS001876
(portability-PLR_715.2)
 PSS008235|
South Asian Ancestry|
5,671 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ankylosing spondylitis — — Partial Correlation (partial-r): 0.0279 [0.0019, 0.054] sex, age, birth date, deprivation index, 16 PCs —
PPM011572 PGS002089
(portability-ldpred2_715.2)
 PSS009353|
European Ancestry|
18,262 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ankylosing spondylitis — — Partial Correlation (partial-r): 0.0919 [0.0775, 0.1063] sex, age, birth date, deprivation index, 16 PCs —
PPM011573 PGS002089
(portability-ldpred2_715.2)
 PSS009127|
European Ancestry|
3,854 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ankylosing spondylitis — — Partial Correlation (partial-r): 0.0476 [0.016, 0.0791] sex, age, birth date, deprivation index, 16 PCs —
PPM011574 PGS002089
(portability-ldpred2_715.2)
 PSS008681|
European Ancestry|
6,216 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ankylosing spondylitis — — Partial Correlation (partial-r): 0.0596 [0.0348, 0.0844] sex, age, birth date, deprivation index, 16 PCs —
PPM011576 PGS002089
(portability-ldpred2_715.2)
 PSS008235|
South Asian Ancestry|
5,671 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ankylosing spondylitis — — Partial Correlation (partial-r): 0.0424 [0.0163, 0.0684] sex, age, birth date, deprivation index, 16 PCs —
PPM011575 PGS002089
(portability-ldpred2_715.2)
 PSS008455|
Greater Middle Eastern Ancestry|
1,124 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Ankylosing spondylitis — — Partial Correlation (partial-r): 0.1631 [0.1051, 0.22] sex, age, birth date, deprivation index, 16 PCs —
PPM017073 PGS003420
(PRS100_PRScs)
 PSS010115|
East Asian Ancestry|
1,298 individuals
 PGP000431 |
Ko CL et al. J Transl Med (2022)
 Reported Trait: Ankylosing spondylitis — AUROC: 0.7886 — — —
PPM017074 PGS003421
(PRS16_C+T)
 PSS010115|
East Asian Ancestry|
1,298 individuals
 PGP000431 |
Ko CL et al. J Transl Med (2022)
 Reported Trait: Ankylosing spondylitis — AUROC: 0.7876 — — —
PPM017075 PGS003422
(PRS16_PRSice2)
 PSS010115|
East Asian Ancestry|
1,298 individuals
 PGP000431 |
Ko CL et al. J Transl Med (2022)
 Reported Trait: Ankylosing spondylitis — AUROC: 0.7876 — — —
PPM017076 PGS003423
(PRS100_Lassosum)
 PSS010115|
East Asian Ancestry|
1,298 individuals
 PGP000431 |
Ko CL et al. J Transl Med (2022)
 Reported Trait: Ankylosing spondylitis — AUROC: 0.7754 — — —
PPM017077 PGS003424
(PRS100_LDpred2)
 PSS010115|
East Asian Ancestry|
1,298 individuals
 PGP000431 |
Ko CL et al. J Transl Med (2022)
 Reported Trait: Ankylosing spondylitis — AUROC: 0.7605 — — —
PPM020601 PGS004486
(disease.M51.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: M51 (Other intervertebral disk disorders) OR: 1.18281 — — — —
PPM020671 PGS004556
(meta.M51.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: M51 (Other intervertebral disk disorders) OR: 1.1419 — — — —
PPM037853 PGS019671
(TPMI_715.2_Lassosum2)
 PSS013569|
East Asian Ancestry|
18,296 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Ankylosing spondylitis — AUROC: 0.86947 R²: 0.25284 sex, age, array, PCs 1-10 —
PPM037854 PGS019672
(TPMI_715.2_LDpred2)
 PSS013568|
East Asian Ancestry|
18,296 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Ankylosing spondylitis — AUROC: 0.86298 R²: 0.23372 sex, age, array, PCs 1-10 —
PPM037855 PGS019673
(TPMI_715.2_MegaPRS)
 PSS013570|
East Asian Ancestry|
18,296 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Ankylosing spondylitis — AUROC: 0.85382 R²: 0.13327 sex, age, array, PCs 1-10 —
PPM037856 PGS019674
(TPMI_715.2_PRS-CS)
 PSS013571|
East Asian Ancestry|
18,296 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Ankylosing spondylitis — AUROC: 0.86714 R²: 0.24903 sex, age, array, PCs 1-10 —
PPM037857 PGS019675
(TPMI_715.2_PRSmix+)
 PSS013572|
East Asian Ancestry|
18,296 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Ankylosing spondylitis — AUROC: 0.86288 R²: 0.2427 sex, age, array, PCs 1-10 —
PPM037858 PGS019676
(TPMI_715.2_SBayesR)
 PSS013573|
East Asian Ancestry|
18,296 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Ankylosing spondylitis — AUROC: 0.86099 R²: 0.17524 sex, age, array, PCs 1-10 —

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
PSS013568 720.0,M08.1, M45 —
[
  • 268 cases
  • , 18,028 controls
]
,
47.47 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013569 720.0,M08.1, M45 —
[
  • 268 cases
  • , 18,028 controls
]
,
47.47 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013570 720.0,M08.1, M45 —
[
  • 268 cases
  • , 18,028 controls
]
,
47.47 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013571 720.0,M08.1, M45 —
[
  • 268 cases
  • , 18,028 controls
]
,
47.47 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013572 720.0,M08.1, M45 —
[
  • 268 cases
  • , 18,028 controls
]
,
47.47 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013573 720.0,M08.1, M45 —
[
  • 268 cases
  • , 18,028 controls
]
,
47.47 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS010115 — —
[
  • 185 cases
  • , 1,112 controls
]
 — East Asian
(Taiwanese)		 — NR TPMI
PSS008681 — — 6,216 individuals — European Italy (South Europe) UKB —
PSS008455 — — 1,124 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009353 — — 18,262 individuals — European UK (+ Ireland) UKB —
PSS004228 — —
[
  • 5 cases
  • , 6,492 controls
]
 — African unspecified — UKB —
PSS004229 — —
[
  • 2 cases
  • , 1,702 controls
]
 — East Asian — UKB —
PSS004486 — —
[
  • 5 cases
  • , 6,492 controls
]
 — African unspecified — UKB —
PSS004487 — —
[
  • 2 cases
  • , 1,702 controls
]
 — East Asian — UKB —
PSS004488 — —
[
  • 79 cases
  • , 24,826 controls
]
 — European non-white British ancestry UKB —
PSS004489 — —
[
  • 14 cases
  • , 7,817 controls
]
 — South Asian — UKB —
PSS004490 — —
[
  • 268 cases
  • , 67,157 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS004230 — —
[
  • 80 cases
  • , 24,825 controls
]
 — European non-white British ancestry UKB —
PSS004231 — —
[
  • 15 cases
  • , 7,816 controls
]
 — South Asian — UKB —
PSS004232 — —
[
  • 278 cases
  • , 67,147 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS011364 — — 56,192 individuals — European — UKB —
PSS009127 — — 3,854 individuals — European Poland (NE Europe) UKB —
PSS008235 — — 5,671 individuals — South Asian India (South Asia) UKB —