Trait: disease of pilosebaceous unit

Trait Information
Identifier MONDO_0002917
Description A disease that involves the pilosebaceous unit. [MONDO: patterns/location]
Trait category
Other disease
Synonyms 8 synonyms
  • disease of pilosebaceous unit
  • disease or disorder of pilosebaceous unit
  • disorder of pilosebaceous unit
  • hair and hair follicle diseases
  • hair disorder
  • hair/hair follicle diseases
  • pilosebaceous unit disease
  • pilosebaceous unit disease or disorder
Mapped terms 8 mapped terms
  • DOID:421
  • ICD9:704.8
  • ICD9:704.9
  • MESH:D006201
  • NCIT:C34656
  • SCTID:201128002
  • UMLS:C0018500
  • UMLS:C0554472
Child trait(s) Follicular Cyst

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 all PGS for "disease of pilosebaceous unit" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS000963
(GBE_HC1184)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Follicular cysts of skin and subcutaneous tissue (time-to-event) Follicular Cyst 264
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000963/ScoringFiles/PGS000963.txt.gz
PGS001873
(portability-PLR_704)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Diseases of hair and hair follicles disease of pilosebaceous unit 461
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001873/ScoringFiles/PGS001873.txt.gz
PGS002086
(portability-ldpred2_704)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Diseases of hair and hair follicles disease of pilosebaceous unit 160,693
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002086/ScoringFiles/PGS002086.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
PPM007639 PGS000963
(GBE_HC1184)
PSS004168|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE follicular cysts of skin and subcutaneous tissue AUROC: 0.56399 [0.51489, 0.61308] : 0.01027
Incremental AUROC (full-covars): -0.00108
PGS R2 (no covariates): 0.00011
PGS AUROC (no covariates): 0.51899 [0.4747, 0.56328]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007640 PGS000963
(GBE_HC1184)
PSS004169|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE follicular cysts of skin and subcutaneous tissue AUROC: 0.64299 [0.54406, 0.74191] : 0.02377
Incremental AUROC (full-covars): 0.01591
PGS R2 (no covariates): 0.00898
PGS AUROC (no covariates): 0.60189 [0.51478, 0.689]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007641 PGS000963
(GBE_HC1184)
PSS004170|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE follicular cysts of skin and subcutaneous tissue AUROC: 0.61353 [0.59056, 0.63651] : 0.02635
Incremental AUROC (full-covars): 0.0691
PGS R2 (no covariates): 0.02281
PGS AUROC (no covariates): 0.59346 [0.56998, 0.61695]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007642 PGS000963
(GBE_HC1184)
PSS004171|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE follicular cysts of skin and subcutaneous tissue AUROC: 0.64204 [0.6008, 0.68328] : 0.03504
Incremental AUROC (full-covars): 0.04562
PGS R2 (no covariates): 0.02125
PGS AUROC (no covariates): 0.56287 [0.51348, 0.61226]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007643 PGS000963
(GBE_HC1184)
PSS004172|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE follicular cysts of skin and subcutaneous tissue AUROC: 0.6146 [0.60131, 0.6279] : 0.02902
Incremental AUROC (full-covars): 0.06632
PGS R2 (no covariates): 0.02439
PGS AUROC (no covariates): 0.58761 [0.57398, 0.60124]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009873 PGS001873
(portability-PLR_704)
PSS009124|
European Ancestry|
4,120 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diseases of hair and hair follicles Partial Correlation (partial-r): 0.0826 [0.0521, 0.113] sex, age, birth date, deprivation index, 16 PCs
PPM009874 PGS001873
(portability-PLR_704)
PSS008678|
European Ancestry|
6,645 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diseases of hair and hair follicles Partial Correlation (partial-r): 0.0472 [0.0232, 0.0712] sex, age, birth date, deprivation index, 16 PCs
PPM009876 PGS001873
(portability-PLR_704)
PSS008232|
South Asian Ancestry|
6,308 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diseases of hair and hair follicles Partial Correlation (partial-r): 0.0395 [0.0147, 0.0641] sex, age, birth date, deprivation index, 16 PCs
PPM009877 PGS001873
(portability-PLR_704)
PSS008012|
East Asian Ancestry|
1,809 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diseases of hair and hair follicles Partial Correlation (partial-r): -0.0177 [-0.064, 0.0287] sex, age, birth date, deprivation index, 16 PCs
PPM009878 PGS001873
(portability-PLR_704)
PSS007797|
African Ancestry|
2,478 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diseases of hair and hair follicles Partial Correlation (partial-r): -0.0289 [-0.0684, 0.0106] sex, age, birth date, deprivation index, 16 PCs
PPM009879 PGS001873
(portability-PLR_704)
PSS008901|
African Ancestry|
3,918 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diseases of hair and hair follicles Partial Correlation (partial-r): -0.0047 [-0.0361, 0.0267] sex, age, birth date, deprivation index, 16 PCs
PPM009872 PGS001873
(portability-PLR_704)
PSS009350|
European Ancestry|
19,926 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diseases of hair and hair follicles Partial Correlation (partial-r): 0.056 [0.0422, 0.0699] sex, age, birth date, deprivation index, 16 PCs
PPM009875 PGS001873
(portability-PLR_704)
PSS008452|
Greater Middle Eastern Ancestry|
1,195 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diseases of hair and hair follicles Partial Correlation (partial-r): 0.0567 sex, age, birth date, deprivation index, 16 PCs
PPM011549 PGS002086
(portability-ldpred2_704)
PSS009124|
European Ancestry|
4,120 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diseases of hair and hair follicles Partial Correlation (partial-r): 0.0931 [0.0627, 0.1234] sex, age, birth date, deprivation index, 16 PCs
PPM011550 PGS002086
(portability-ldpred2_704)
PSS008678|
European Ancestry|
6,645 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diseases of hair and hair follicles Partial Correlation (partial-r): 0.0507 [0.0267, 0.0747] sex, age, birth date, deprivation index, 16 PCs
PPM011551 PGS002086
(portability-ldpred2_704)
PSS008452|
Greater Middle Eastern Ancestry|
1,195 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diseases of hair and hair follicles Partial Correlation (partial-r): 0.0436 [-0.0136, 0.1005] sex, age, birth date, deprivation index, 16 PCs
PPM011552 PGS002086
(portability-ldpred2_704)
PSS008232|
South Asian Ancestry|
6,308 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diseases of hair and hair follicles Partial Correlation (partial-r): 0.0386 [0.0139, 0.0633] sex, age, birth date, deprivation index, 16 PCs
PPM011553 PGS002086
(portability-ldpred2_704)
PSS008012|
East Asian Ancestry|
1,809 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diseases of hair and hair follicles Partial Correlation (partial-r): -0.0205 [-0.0668, 0.0258] sex, age, birth date, deprivation index, 16 PCs
PPM011554 PGS002086
(portability-ldpred2_704)
PSS007797|
African Ancestry|
2,478 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diseases of hair and hair follicles Partial Correlation (partial-r): -0.0452 [-0.0846, -0.0057] sex, age, birth date, deprivation index, 16 PCs
PPM011555 PGS002086
(portability-ldpred2_704)
PSS008901|
African Ancestry|
3,918 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diseases of hair and hair follicles Partial Correlation (partial-r): 0.003 [-0.0284, 0.0344] sex, age, birth date, deprivation index, 16 PCs
PPM011548 PGS002086
(portability-ldpred2_704)
PSS009350|
European Ancestry|
19,926 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Diseases of hair and hair follicles Partial Correlation (partial-r): 0.0632 [0.0494, 0.0771] sex, age, birth date, deprivation index, 16 PCs

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
PSS009124 4,120 individuals European Poland (NE Europe) UKB
PSS008901 3,918 individuals African unspecified Nigeria (West Africa) UKB
PSS008678 6,645 individuals European Italy (South Europe) UKB
PSS009350 19,926 individuals European UK (+ Ireland) UKB
PSS008232 6,308 individuals South Asian India (South Asia) UKB
PSS008452 1,195 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB
PSS008012 1,809 individuals East Asian China (East Asia) UKB
PSS004168
[
  • 141 cases
  • , 6,356 controls
]
African unspecified UKB
PSS004169
[
  • 29 cases
  • , 1,675 controls
]
East Asian UKB
PSS004170
[
  • 668 cases
  • , 24,237 controls
]
European non-white British ancestry UKB
PSS004171
[
  • 180 cases
  • , 7,651 controls
]
South Asian UKB
PSS004172
[
  • 1,995 cases
  • , 65,430 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS007797 2,478 individuals African American or Afro-Caribbean Carribean UKB