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
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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)
Hemorrhoidhemorrhoid786
-
D
E
 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)
Hemorrhoidshemorrhoid5,434
-
D
E
 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)
Hemorrhoidshemorrhoid780,418
-
D
E
 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)hemorrhoid1,059,939
-
D
E
 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)hemorrhoid1,059,939
-
D
E
 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)
Hemorrhoidhemorrhoid184,519
-
D
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004933/ScoringFiles/PGS004933.txt.gz
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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.

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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
PPM007883PGS001024
(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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM007884PGS001024
(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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM007885PGS001024
(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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM007886PGS001024
(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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM007887PGS001024
(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 PCsFull Model & PGS R2 is estimated using Nagelkerke's method
PPM009658PGS001846
(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—
PPM009659PGS001846
(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—
PPM009660PGS001846
(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—
PPM009661PGS001846
(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—
PPM009662PGS001846
(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—
PPM009663PGS001846
(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—
PPM009664PGS001846
(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—
PPM009665PGS001846
(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—
PPM011326PGS002058
(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—
PPM011327PGS002058
(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—
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Evaluated Samples

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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
]
—Europeannon-white British ancestryUKB—
PSS004544——
[
  • 609 cases
  • , 7,222 controls
]
—South Asian—UKB—
PSS004545——
[
  • 4,471 cases
  • , 62,954 controls
]
—Europeanwhite British ancestryUKBTesting cohort (heldout set)
PSS007768——2,423 individuals—African American or Afro-CaribbeanCarribeanUKB—
PSS007985——1,785 individuals—East AsianChina (East Asia)UKB—
PSS008203——6,161 individuals—South AsianIndia (South Asia)UKB—
PSS008423——1,179 individuals—Greater Middle Eastern (Middle Eastern, North African or Persian)Iran (Middle East)UKB—
PSS008649——6,440 individuals—EuropeanItaly (South Europe)UKB—
PSS008872——3,828 individuals—African unspecifiedNigeria (West Africa)UKB—
PSS009095——3,955 individuals—EuropeanPoland (NE Europe)UKB—
PSS009321——19,218 individuals—EuropeanUK (+ Ireland)UKB—
PSS011364——56,192 individuals—European—UKB—
PSS011762——8,417 individuals—European—BBofA—
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