Trait: Hodgkins lymphoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000183
Description Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes. [NCIT: C9357] [Orphanet: 98293]
Trait category
Cancer
Synonyms 12 synonyms
  • HL
  • Hodgkin disease
  • Hodgkin lymphoma
  • Hodgkin's Disease
  • Hodgkin's disease
  • Hodgkin's lymphoma
  • Hodgkin's sarcoma
  • Hodgkin's sarcoma
  • Hodgkins lymphoma
  • lymphoma, Hodgkin's
  • stage I subdiaphragmatic Hodgkin lymphoma
  • stage II subdiaphragmatic Hodgkin lymphoma
Mapped terms 22 mapped terms
  • DOID:8567
  • EFO:0000183
  • GARD:0002714
  • GARD:2714
  • ICD10:C81
  • ICD10:C81.9
  • ICD9:201
  • ICD9:201.0
  • ICD9:201.1
  • ICD9:201.2
  • ICD9:201.9
  • ICD9:201.90
  • ICDO:9650/3
  • MESH:D006689
  • MONDO:0004952
  • NANDO:2200024
  • NCIT:C9357
  • NORD:1246
  • OMIM:236000
  • ONCOTREE:HL
  • Orphanet:98293
  • icd11.foundation:1528863768

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)
PGS000637
(PRSWEB_PHECODE201_20001-1052_PRS-CS_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Hodgkin's disease Hodgkins lymphoma 1,047,511
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000637/ScoringFiles/PGS000637.txt.gz
PGS000638
(PRSWEB_PHECODE201_GWAS-Catalog-r2019-05-03-X201_P_5e-08_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Hodgkin's disease Hodgkins lymphoma 16
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000638/ScoringFiles/PGS000638.txt.gz
PGS000639
(PRSWEB_PHECODE201_GWAS-Catalog-r2019-05-03-X201_PT_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Hodgkin's disease Hodgkins lymphoma 20
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000639/ScoringFiles/PGS000639.txt.gz
PGS000640
(PRSWEB_PHECODE201_UKBB-SAIGE-HRC-X201_LASSOSUM_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Hodgkin's disease Hodgkins lymphoma 1,119,335
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000640/ScoringFiles/PGS000640.txt.gz
PGS003449
(PRS21_HL)
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Hodgkin lymphoma Hodgkins lymphoma 21
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003449/ScoringFiles/PGS003449.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
PPM001322 PGS000637
(PRSWEB_PHECODE201_20001-1052_PRS-CS_MGI_20200608)
 PSS000559|
European Ancestry|
775 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Hodgkin's disease OR: 1.3 [1.023, 1.651]
β: 0.262 (0.122)		 AUROC: 0.574 [0.501, 0.642] Nagelkerke's Pseudo-R²: 0.013
Brier score: 0.0826
Odds Ratio (OR, top 1% vs. Rest): 1.67 [0.264, 10.5]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE201_20001-1052_PRS-CS_MGI_20200608
PPM001323 PGS000638
(PRSWEB_PHECODE201_GWAS-Catalog-r2019-05-03-X201_P_5e-08_MGI_20200608)
 PSS000559|
European Ancestry|
775 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Hodgkin's disease OR: 1.377 [1.08, 1.755]
β: 0.32 (0.124)		 AUROC: 0.601 [0.535, 0.671] Nagelkerke's Pseudo-R²: 0.0193
Brier score: 0.0824
Odds Ratio (OR, top 1% vs. Rest): 1.62 [0.258, 10.1]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE201_GWAS-Catalog-r2019-05-03-X201_P_5e-08_MGI_20200608
PPM001324 PGS000639
(PRSWEB_PHECODE201_GWAS-Catalog-r2019-05-03-X201_PT_MGI_20200608)
 PSS000559|
European Ancestry|
775 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Hodgkin's disease OR: 1.476 [1.154, 1.889]
β: 0.39 (0.126)		 AUROC: 0.62 [0.559, 0.688] Nagelkerke's Pseudo-R²: 0.0276
Brier score: 0.0821
Odds Ratio (OR, top 1% vs. Rest): 2.64 [0.572, 12.2]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE201_GWAS-Catalog-r2019-05-03-X201_PT_MGI_20200608
PPM001325 PGS000640
(PRSWEB_PHECODE201_UKBB-SAIGE-HRC-X201_LASSOSUM_MGI_20200608)
 PSS000559|
European Ancestry|
775 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Hodgkin's disease OR: 1.292 [1.011, 1.651]
β: 0.256 (0.125)		 AUROC: 0.569 [0.501, 0.634] Nagelkerke's Pseudo-R²: 0.0109
Brier score: 0.0828
Odds Ratio (OR, top 1% vs. Rest): 1.64 [0.261, 10.3]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE201_UKBB-SAIGE-HRC-X201_LASSOSUM_MGI_20200608
PPM017231 PGS003449
(PRS21_HL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Chronic lymphocytic leukemia OR: 1.02 [0.97, 1.08] — — — —
PPM017239 PGS003449
(PRS21_HL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Diffuse large B-cell lymphoma OR: 1.07 [1.02, 1.13] — — — —
PPM017247 PGS003449
(PRS21_HL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Follicular lymphoma OR: 0.88 [0.83, 0.93] — — — —
PPM017255 PGS003449
(PRS21_HL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Marginal zone lymphoma OR: 1.05 [0.96, 1.16] — — — —

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
PSS000559 PheCode:201; ICD9CM:201.00, 201.01, 201.02, 201.03, 201.04, 201.05, 201.06, 201.07, 201.08, 201.10, 201.11, 201.12, 201.13, 201.14, 201.15, 201.16, 201.17, 201.18, 201.20, 201.21, 201.22, 201.23, 201.24, 201.25, 201.26, 201.27, 201.28, 201.40, 201.41, 201.42, 201.43, 201.44, 201.45, 201.46, 201.47, 201.48, 201.50, 201.51, 201.52, 201.53, 201.54, 201.55, 201.56, 201.57, 201.58, 201.60, 201.61, 201.62, 201.63, 201.64, 201.65, 201.66, 201.67, 201.68, 201.70, 201.71, 201.72, 201.73, 201.74, 201.75, 201.76, 201.77, 201.78, 201.90, 201.91, 201.92, 201.93, 201.94, 201.95, 201.96, 201.97, 201.98, V10.72; ICD10CM:C81, C81.0, C81.00, C81.01, C81.02, C81.03, C81.04, C81.05, C81.06, C81.07, C81.08, C81.09, C81.1, C81.10, C81.11, C81.12, C81.13, C81.14, C81.15, C81.16, C81.17, C81.18, C81.19, C81.2, C81.20, C81.21, C81.22, C81.23, C81.24, C81.25, C81.26, C81.27, C81.28, C81.29, C81.3, C81.30, C81.31, C81.32, C81.33, C81.34, C81.35, C81.36, C81.37, C81.38, C81.39, C81.4, C81.40, C81.41, C81.42, C81.43, C81.44, C81.45, C81.46, C81.47, C81.48, C81.49, C81.7, C81.70, C81.71, C81.72, C81.73, C81.74, C81.75, C81.76, C81.77, C81.78, C81.79, C81.9, C81.90, C81.91, C81.92, C81.93, C81.94, C81.95, C81.96, C81.97, C81.98, C81.99 —
[
  • 71 cases
  • , 704 controls
]
 — European — MGI —
PSS010176 — —
[
  • 10,629 cases
  • , 9,505 controls
]
 — European — NR Inter- Lymph Consortium