Trait: carbuncle

Experimental Factor Ontology (EFO) Information
Identifier EFO_1000674
Description a cluster of boils, draining pus onto the skin. It is usually caused by bacterial infection, most commonly with Staphylococcus aureusorStreptococcus pyogenes, which can turn lethal. However, the presence of a carbuncle is actually a sign that the immune system is working.[1] The infection is contagious and may spread to other areas of the body, or other people; those living in the same residence may develop carbuncles at the same time.
Trait category
Other trait

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)
PGS019577
(TPMI_686.1_Lassosum2)
PGP000835 |
Chen HH et al. Nature (2025)
Carbuncle and furuncle carbuncle,
Furuncle
1,661
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019577/ScoringFiles/PGS019577.txt.gz
PGS019578
(TPMI_686.1_LDpred2)
PGP000835 |
Chen HH et al. Nature (2025)
Carbuncle and furuncle carbuncle,
Furuncle
277,466
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019578/ScoringFiles/PGS019578.txt.gz
PGS019579
(TPMI_686.1_MegaPRS)
PGP000835 |
Chen HH et al. Nature (2025)
Carbuncle and furuncle carbuncle,
Furuncle
15,269
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019579/ScoringFiles/PGS019579.txt.gz
PGS019580
(TPMI_686.1_PRS-CS)
PGP000835 |
Chen HH et al. Nature (2025)
Carbuncle and furuncle carbuncle,
Furuncle
983,812
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019580/ScoringFiles/PGS019580.txt.gz
PGS019581
(TPMI_686.1_SBayesR)
PGP000835 |
Chen HH et al. Nature (2025)
Carbuncle and furuncle carbuncle,
Furuncle
998,066
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019581/ScoringFiles/PGS019581.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
PPM037759 PGS019577
(TPMI_686.1_Lassosum2)
PSS013480|
East Asian Ancestry|
18,024 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Carbuncle and furuncle AUROC: 0.68152 : 0.02271 sex, age, array, PCs 1-10
PPM037760 PGS019578
(TPMI_686.1_LDpred2)
PSS013479|
East Asian Ancestry|
18,024 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Carbuncle and furuncle AUROC: 0.67893 : 0.02188 sex, age, array, PCs 1-10
PPM037761 PGS019579
(TPMI_686.1_MegaPRS)
PSS013481|
East Asian Ancestry|
18,024 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Carbuncle and furuncle AUROC: 0.67614 : 0.02143 sex, age, array, PCs 1-10
PPM037762 PGS019580
(TPMI_686.1_PRS-CS)
PSS013482|
East Asian Ancestry|
18,024 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Carbuncle and furuncle AUROC: 0.67806 : 0.02196 sex, age, array, PCs 1-10
PPM037763 PGS019581
(TPMI_686.1_SBayesR)
PSS013483|
East Asian Ancestry|
18,024 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Carbuncle and furuncle AUROC: 0.6782 : 0.02246 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
PSS013479 680,H60.0, L02.02, L02.03, L02.12, L02.13, L02.22, L02.23, L02.32, L02.33, L02.42, L02.43, L02.52, L02.53, L02.62, L02.63, L02.821, L02.828, L02.831, L02.838, L02.92, L02.93, N61.0, N61.1
[
  • 199 cases
  • , 17,825 controls
]
,
45.72 % Male samples
East Asian
(Han Chinese)
TPMI
PSS013480 680,H60.0, L02.02, L02.03, L02.12, L02.13, L02.22, L02.23, L02.32, L02.33, L02.42, L02.43, L02.52, L02.53, L02.62, L02.63, L02.821, L02.828, L02.831, L02.838, L02.92, L02.93, N61.0, N61.1
[
  • 199 cases
  • , 17,825 controls
]
,
45.72 % Male samples
East Asian
(Han Chinese)
TPMI
PSS013481 680,H60.0, L02.02, L02.03, L02.12, L02.13, L02.22, L02.23, L02.32, L02.33, L02.42, L02.43, L02.52, L02.53, L02.62, L02.63, L02.821, L02.828, L02.831, L02.838, L02.92, L02.93, N61.0, N61.1
[
  • 199 cases
  • , 17,825 controls
]
,
45.72 % Male samples
East Asian
(Han Chinese)
TPMI
PSS013482 680,H60.0, L02.02, L02.03, L02.12, L02.13, L02.22, L02.23, L02.32, L02.33, L02.42, L02.43, L02.52, L02.53, L02.62, L02.63, L02.821, L02.828, L02.831, L02.838, L02.92, L02.93, N61.0, N61.1
[
  • 199 cases
  • , 17,825 controls
]
,
45.72 % Male samples
East Asian
(Han Chinese)
TPMI
PSS013483 680,H60.0, L02.02, L02.03, L02.12, L02.13, L02.22, L02.23, L02.32, L02.33, L02.42, L02.43, L02.52, L02.53, L02.62, L02.63, L02.821, L02.828, L02.831, L02.838, L02.92, L02.93, N61.0, N61.1
[
  • 199 cases
  • , 17,825 controls
]
,
45.72 % Male samples
East Asian
(Han Chinese)
TPMI