Trait: hemorrhoid

Experimental Factor Ontology (EFO) Information
Identifier EFO_0009552
Description Dilated veins in the anal canal. [NCIT: C26792]
Trait category
Cardiovascular disease
Synonyms 4 synonyms
  • Haemorrhoids
  • Hemorrhoids
  • hemorrhoid
  • hemorrhoidal disease
Mapped terms 13 mapped terms
  • DOID:9746
  • ICD10:I84
  • ICD10:K64
  • ICD9:455
  • ICD9:455.8
  • MEDGEN:5507
  • MESH:D006484
  • MONDO:0004872
  • MeSH:D006484
  • NCIT:C26792
  • NCIt:C26792
  • SCTID:70153002
  • UMLS:C0019112

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)
PGS001024
(GBE_HC61)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Hemorrhoid hemorrhoid 786
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001024/ScoringFiles/PGS001024.txt.gz
PGS001846
(portability-PLR_455)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Hemorrhoids hemorrhoid 5,434
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001846/ScoringFiles/PGS001846.txt.gz
PGS002058
(portability-ldpred2_455)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Hemorrhoids hemorrhoid 780,418
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002058/ScoringFiles/PGS002058.txt.gz
PGS004464
(disease.I84.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 I84 (Hemorrhoids) hemorrhoid 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004464/ScoringFiles/PGS004464.txt.gz
PGS004534
(meta.I84.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 I84 (Hemorrhoids) hemorrhoid 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004534/ScoringFiles/PGS004534.txt.gz
PGS004933
(hemorrhoid_LDpred2_combined)
 PGP000665 |
Moreno-Grau S et al. Human Genomics (2024)
 Hemorrhoid hemorrhoid 184,519
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004933/ScoringFiles/PGS004933.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
PPM007883 PGS001024
(GBE_HC61)
 PSS004541|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Haemorrhoids / piles — AUROC: 0.57317 [0.5447, 0.60164] R²: 0.01288
Incremental AUROC (full-covars): -0.00092
PGS R2 (no covariates): 0.00035
PGS AUROC (no covariates): 0.50826 [0.48122, 0.53531]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007884 PGS001024
(GBE_HC61)
 PSS004542|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Haemorrhoids / piles — AUROC: 0.59643 [0.55346, 0.63941] R²: 0.02452
Incremental AUROC (full-covars): -0.00644
PGS R2 (no covariates): 0.00062
PGS AUROC (no covariates): 0.48158 [0.43444, 0.52871]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007885 PGS001024
(GBE_HC61)
 PSS004543|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Haemorrhoids / piles — AUROC: 0.58423 [0.56992, 0.59855] R²: 0.01383
Incremental AUROC (full-covars): 0.00316
PGS R2 (no covariates): 0.00067
PGS AUROC (no covariates): 0.51671 [0.50198, 0.53143]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007886 PGS001024
(GBE_HC61)
 PSS004544|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Haemorrhoids / piles — AUROC: 0.59907 [0.57631, 0.62183] R²: 0.01861
Incremental AUROC (full-covars): -0.00302
PGS R2 (no covariates): 0.0
PGS AUROC (no covariates): 0.50215 [0.47847, 0.52583]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007887 PGS001024
(GBE_HC61)
 PSS004545|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Haemorrhoids / piles — AUROC: 0.56311 [0.5545, 0.57173] R²: 0.00825
Incremental AUROC (full-covars): 0.00353
PGS R2 (no covariates): 0.00132
PGS AUROC (no covariates): 0.5223 [0.51348, 0.53112]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009658 PGS001846
(portability-PLR_455)
 PSS009321|
European Ancestry|
19,218 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hemorrhoids — — Partial Correlation (partial-r): 0.0438 [0.0297, 0.0579] sex, age, birth date, deprivation index, 16 PCs —
PPM009659 PGS001846
(portability-PLR_455)
 PSS009095|
European Ancestry|
3,955 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hemorrhoids — — Partial Correlation (partial-r): 0.03 [-0.0013, 0.0612] sex, age, birth date, deprivation index, 16 PCs —
PPM009660 PGS001846
(portability-PLR_455)
 PSS008649|
European Ancestry|
6,440 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hemorrhoids — — Partial Correlation (partial-r): 0.0317 [0.0073, 0.0561] sex, age, birth date, deprivation index, 16 PCs —
PPM009661 PGS001846
(portability-PLR_455)
 PSS008423|
Greater Middle Eastern Ancestry|
1,179 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hemorrhoids — — Partial Correlation (partial-r): 0.0421 [-0.0155, 0.0995] sex, age, birth date, deprivation index, 16 PCs —
PPM009662 PGS001846
(portability-PLR_455)
 PSS008203|
South Asian Ancestry|
6,161 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hemorrhoids — — Partial Correlation (partial-r): 0.0213 [-0.0037, 0.0463] sex, age, birth date, deprivation index, 16 PCs —
PPM009663 PGS001846
(portability-PLR_455)
 PSS007985|
East Asian Ancestry|
1,785 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hemorrhoids — — Partial Correlation (partial-r): 0.0326 [-0.0141, 0.0791] sex, age, birth date, deprivation index, 16 PCs —
PPM009664 PGS001846
(portability-PLR_455)
 PSS007768|
African Ancestry|
2,423 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hemorrhoids — — Partial Correlation (partial-r): -0.0211 [-0.061, 0.0189] sex, age, birth date, deprivation index, 16 PCs —
PPM009665 PGS001846
(portability-PLR_455)
 PSS008872|
African Ancestry|
3,828 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hemorrhoids — — Partial Correlation (partial-r): 0.002 [-0.0298, 0.0337] sex, age, birth date, deprivation index, 16 PCs —
PPM011326 PGS002058
(portability-ldpred2_455)
 PSS009321|
European Ancestry|
19,218 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hemorrhoids — — Partial Correlation (partial-r): 0.0589 [0.0448, 0.073] sex, age, birth date, deprivation index, 16 PCs —
PPM011327 PGS002058
(portability-ldpred2_455)
 PSS009095|
European Ancestry|
3,955 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hemorrhoids — — Partial Correlation (partial-r): 0.062 [0.0308, 0.0931] sex, age, birth date, deprivation index, 16 PCs —
PPM011328 PGS002058
(portability-ldpred2_455)
 PSS008649|
European Ancestry|
6,440 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hemorrhoids — — Partial Correlation (partial-r): 0.0553 [0.0309, 0.0797] sex, age, birth date, deprivation index, 16 PCs —
PPM011329 PGS002058
(portability-ldpred2_455)
 PSS008423|
Greater Middle Eastern Ancestry|
1,179 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hemorrhoids — — Partial Correlation (partial-r): -0.001 [-0.0586, 0.0565] sex, age, birth date, deprivation index, 16 PCs —
PPM011331 PGS002058
(portability-ldpred2_455)
 PSS007985|
East Asian Ancestry|
1,785 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hemorrhoids — — Partial Correlation (partial-r): 0.0713 [0.0247, 0.1175] sex, age, birth date, deprivation index, 16 PCs —
PPM011332 PGS002058
(portability-ldpred2_455)
 PSS007768|
African Ancestry|
2,423 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hemorrhoids — — Partial Correlation (partial-r): 0.0085 [-0.0315, 0.0485] sex, age, birth date, deprivation index, 16 PCs —
PPM011333 PGS002058
(portability-ldpred2_455)
 PSS008872|
African Ancestry|
3,828 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hemorrhoids — — Partial Correlation (partial-r): 0.042 [0.0103, 0.0737] sex, age, birth date, deprivation index, 16 PCs —
PPM011330 PGS002058
(portability-ldpred2_455)
 PSS008203|
South Asian Ancestry|
6,161 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hemorrhoids — — Partial Correlation (partial-r): 0.057 [0.032, 0.0819] sex, age, birth date, deprivation index, 16 PCs —
PPM020579 PGS004464
(disease.I84.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: I84 (Haemorrhoids) OR: 1.13492 — — — —
PPM020649 PGS004534
(meta.I84.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: I84 (Haemorrhoids) OR: 1.15041 — — — —
PPM021721 PGS004933
(hemorrhoid_LDpred2_combined)
 PSS011762|
European Ancestry|
8,417 individuals
 PGP000665 |
Moreno-Grau S et al. Human Genomics (2024)
 Reported Trait: Hemorrhoid OR: 1.1 [1.04, 1.15] AUROC: 0.56 — — —

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
PSS004541 — —
[
  • 433 cases
  • , 6,064 controls
]
 — African unspecified — UKB —
PSS004542 — —
[
  • 164 cases
  • , 1,540 controls
]
 — East Asian — UKB —
PSS004543 — —
[
  • 1,580 cases
  • , 23,325 controls
]
 — European non-white British ancestry UKB —
PSS004544 — —
[
  • 609 cases
  • , 7,222 controls
]
 — South Asian — UKB —
PSS004545 — —
[
  • 4,471 cases
  • , 62,954 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS009321 — — 19,218 individuals — European UK (+ Ireland) UKB —
PSS009095 — — 3,955 individuals — European Poland (NE Europe) UKB —
PSS008649 — — 6,440 individuals — European Italy (South Europe) UKB —
PSS008423 — — 1,179 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS008203 — — 6,161 individuals — South Asian India (South Asia) UKB —
PSS008872 — — 3,828 individuals — African unspecified Nigeria (West Africa) UKB —
PSS007985 — — 1,785 individuals — East Asian China (East Asia) UKB —
PSS011762 — — 8,417 individuals — European — BBofA —
PSS007768 — — 2,423 individuals — African American or Afro-Caribbean Carribean UKB —
PSS011364 — — 56,192 individuals — European — UKB —