Trait: chondrocalcinosis 2

Trait Information
Identifier MONDO_0007319
Description A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA). [Orphanet: 1416]
Trait category
Other trait
Synonyms 18 synonyms
  • CCAL2
  • CPPDD
  • Familial Calcium Pyrophosphate Deposition Disease
  • Pseudogout, familial
  • calcium gout, familial
  • calcium pyrophosphate arthropathy, familial
  • calcium pyrophosphate dihydrate crystal deposition disease
  • chondrocalcinosis 2
  • chondrocalcinosis familial articular
  • chondrocalcinosis type 2
  • familial CC
  • familial CPPD
  • familial articular chondrocalcinosis
  • familial calcium pyrophosphate deposition
  • familial calcium pyrophosphate dihydrate deposition disease
  • hereditary CC
  • hereditary articular chondrocalcinosis
  • hereditary calcium pyrophosphate deposition

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
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS018816
(TPMI_274_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Gout and other crystal arthropathies chondrocalcinosis 2 7,370
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018816/ScoringFiles/PGS018816.txt.gz
PGS018817
(TPMI_274_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Gout and other crystal arthropathies chondrocalcinosis 2 939,841
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018817/ScoringFiles/PGS018817.txt.gz
PGS018818
(TPMI_274_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Gout and other crystal arthropathies chondrocalcinosis 2 483,537
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018818/ScoringFiles/PGS018818.txt.gz
PGS018819
(TPMI_274_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Gout and other crystal arthropathies chondrocalcinosis 2 983,787
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018819/ScoringFiles/PGS018819.txt.gz
PGS018820
(TPMI_274_PRSmix+)
 PGP000835 |
Chen HH et al. Nature (2025)
 Gout and other crystal arthropathies chondrocalcinosis 2 1,071,466
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018820/ScoringFiles/PGS018820.txt.gz
PGS018821
(TPMI_274_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Gout and other crystal arthropathies chondrocalcinosis 2 898,949
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018821/ScoringFiles/PGS018821.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
PPM036998 PGS018816
(TPMI_274_Lassosum2)
 PSS012731|
East Asian Ancestry|
19,681 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Gout and other crystal arthropathies — AUROC: 0.72592 R²: 0.15189 sex, age, array, PCs 1-10 —
PPM036999 PGS018817
(TPMI_274_LDpred2)
 PSS012730|
East Asian Ancestry|
19,681 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Gout and other crystal arthropathies — AUROC: 0.72801 R²: 0.15577 sex, age, array, PCs 1-10 —
PPM037000 PGS018818
(TPMI_274_MegaPRS)
 PSS012732|
East Asian Ancestry|
19,681 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Gout and other crystal arthropathies — AUROC: 0.71916 R²: 0.13938 sex, age, array, PCs 1-10 —
PPM037001 PGS018819
(TPMI_274_PRS-CS)
 PSS012733|
East Asian Ancestry|
19,681 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Gout and other crystal arthropathies — AUROC: 0.72764 R²: 0.15465 sex, age, array, PCs 1-10 —
PPM037002 PGS018820
(TPMI_274_PRSmix+)
 PSS012734|
East Asian Ancestry|
19,681 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Gout and other crystal arthropathies — AUROC: 0.73221 R²: 0.1608 sex, age, array, PCs 1-10 —
PPM037003 PGS018821
(TPMI_274_SBayesR)
 PSS012735|
East Asian Ancestry|
19,681 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Gout and other crystal arthropathies — AUROC: 0.72428 R²: 0.14877 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
PSS012733 274, 712,M10, M11.00, M11.01, M11.02, M11.03, M11.04, M11.05, M11.06, M11.07, M11.08, M11.09, M11.1, M11.2, M11.8, M11.9, M1A —
[
  • 1,862 cases
  • , 17,819 controls
]
,
45.75 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012734 274, 712,M10, M11.00, M11.01, M11.02, M11.03, M11.04, M11.05, M11.06, M11.07, M11.08, M11.09, M11.1, M11.2, M11.8, M11.9, M1A —
[
  • 1,862 cases
  • , 17,819 controls
]
,
45.75 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012735 274, 712,M10, M11.00, M11.01, M11.02, M11.03, M11.04, M11.05, M11.06, M11.07, M11.08, M11.09, M11.1, M11.2, M11.8, M11.9, M1A —
[
  • 1,862 cases
  • , 17,819 controls
]
,
45.75 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012730 274, 712,M10, M11.00, M11.01, M11.02, M11.03, M11.04, M11.05, M11.06, M11.07, M11.08, M11.09, M11.1, M11.2, M11.8, M11.9, M1A —
[
  • 1,862 cases
  • , 17,819 controls
]
,
45.75 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012731 274, 712,M10, M11.00, M11.01, M11.02, M11.03, M11.04, M11.05, M11.06, M11.07, M11.08, M11.09, M11.1, M11.2, M11.8, M11.9, M1A —
[
  • 1,862 cases
  • , 17,819 controls
]
,
45.75 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012732 274, 712,M10, M11.00, M11.01, M11.02, M11.03, M11.04, M11.05, M11.06, M11.07, M11.08, M11.09, M11.1, M11.2, M11.8, M11.9, M1A —
[
  • 1,862 cases
  • , 17,819 controls
]
,
45.75 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —