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. [Orphanet: 98293] [NCIT: C9357]
Trait category
Cancer
Synonyms 83 synonyms
  • Adult Hodgkin Lymphoma
  • Disease, Hodgkin
  • Disease, Hodgkin's
  • Disease, Hodgkins
  • Granuloma, Hodgkin
  • Granuloma, Hodgkin's
  • Granuloma, Hodgkins
  • Granuloma, Malignant
  • HL
  • HODGKIN DIS
  • HODGKINS DIS
  • Hodgkin Granuloma
  • Hodgkin Lymphoma
  • Hodgkin Lymphoma, Adult
  • Hodgkin disease
  • Hodgkin lymphoma
  • Hodgkin lymphoma, no ICD-O subtype (morphologic abnormality)
  • Hodgkin sarcoma [obs]
  • Hodgkin's Disease
  • Hodgkin's Granuloma
  • Hodgkin's Lymphoma stage III
  • Hodgkin's Lymphomas
  • Hodgkin's disease
  • Hodgkin's disease (disorder)
  • Hodgkin's disease NOS
  • Hodgkin's disease NOS (& [lymphogranuloma malignant])
  • Hodgkin's disease NOS (disorder)
  • Hodgkin's disease NOS (morphologic abnormality)
  • Hodgkin's disease NOS of intra-abdominal lymph nodes (disorder)
  • Hodgkin's disease NOS of intrapelvic lymph nodes (disorder)
  • Hodgkin's disease NOS of intrathoracic lymph nodes (disorder)
  • Hodgkin's disease NOS of lymph nodes of axilla and upper limb (disorder)
  • Hodgkin's disease NOS of lymph nodes of head, face and neck (disorder)
  • Hodgkin's disease NOS of lymph nodes of inguinal region and lower limb (disorder)
  • Hodgkin's disease NOS of lymph nodes of multiple sites (disorder)
  • Hodgkin's disease NOS of spleen (disorder)
  • Hodgkin's disease NOS, unspecified site (disorder)
  • Hodgkin's disease of intra-abdominal lymph nodes (disorder)
  • Hodgkin's disease of intrapelvic lymph nodes (disorder)
  • Hodgkin's disease of intrathoracic lymph nodes (disorder)
  • Hodgkin's disease of lymph nodes of axilla and/or upper limb (disorder)
  • Hodgkin's disease of lymph nodes of head, face and/or neck (disorder)
  • Hodgkin's disease of lymph nodes of inguinal region AND/OR lower limb (disorder)
  • Hodgkin's disease of lymph nodes of multiple sites (disorder)
  • Hodgkin's disease of spleen (disorder)
  • Hodgkin's disease, unspecified type
  • Hodgkin's disease, unspecified type, involving intra-abdominal lymph nodes
  • Hodgkin's disease, unspecified type, involving intrapelvic lymph nodes
  • Hodgkin's disease, unspecified type, involving intrathoracic lymph nodes
  • Hodgkin's disease, unspecified type, involving lymph nodes of axilla and upper limb
  • Hodgkin's disease, unspecified type, involving lymph nodes of head, face, and neck
  • Hodgkin's disease, unspecified type, involving lymph nodes of inguinal region and lower limb
  • Hodgkin's disease, unspecified type, involving lymph nodes of multiple sites
  • Hodgkin's disease, unspecified type, involving spleen
  • Hodgkin's disease, unspecified type, unspecified site, extranodal and solid organ sites
  • Hodgkin's lymphoma
  • Hodgkin's lymphoma NOS
  • Hodgkin's sarcoma
  • Hodgkin's sarcoma (disorder)
  • Hodgkin's sarcoma NOS (disorder)
  • Hodgkin's sarcoma of unspecified site (disorder)
  • Hodgkins Disease
  • Hodgkins Diseases
  • Hodgkins Granuloma
  • Hodgkins lymphoma
  • Lymphocyte Depletion Hodgkin's Lymphoma
  • Lymphogranuloma, Malignant
  • Lymphogranuloma, malignant (morphologic abnormality)
  • Lymphogranulomas, Malignant
  • Lymphoma, Hodgkin
  • Lymphoma, Hodgkin's
  • Malignant Granuloma
  • Malignant Granulomas
  • Malignant Lymphogranuloma
  • Malignant Lymphogranulomas
  • Mixed Cellularity Hodgkin's Lymphoma
  • Nodular Lymphocyte Predominant Hodgkin's Lymphoma
  • Nodular Lymphocyte-Predominant Hodgkin's Lymphoma
  • Nodular Sclerosing Hodgkin's Lymphoma
  • Splenic Hodgkins Lymphoma
  • lymphogranulomatosis
  • stage I Subdiaphragmatic Hodgkin Lymphoma
  • stage II Subdiaphragmatic Hodgkin Lymphoma
Mapped term(s) 26 mapped terms
  • DOID:8567
  • DOID:8651
  • GARD:0002714
  • 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
  • MSH:D006689
  • NCIT:C9357
  • NCIt:C5010
  • NCIt:C5012
  • NCIt:C6914
  • NCIt:C7702
  • NCIt:C9357
  • OMIM:236000
  • ONCOTREE:HL
  • Orphanet:98293
  • SNOMEDCT:14537002
  • SNOMEDCT:46923007

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS 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 http://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 http://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 http://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 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000640/ScoringFiles/PGS000640.txt.gz

PGS 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 ID)
Evaluated Score PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS 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 PGP000118
Fritsche LG et al. (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 PGP000118
Fritsche LG et al. (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 PGP000118
Fritsche LG et al. (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 PGP000118
Fritsche LG et al. (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

Evaluated Samples

PGS Sample Set ID
(PSS ID)
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