Trait: diffuse large B-cell lymphoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000403
Description Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common. [Orphanet: 544]
Trait categories
Cancer
Immune system disorder
Synonyms 2 synonyms
  • DLBCL
  • diffuse large B-cell lymphoma
Mapped terms 15 mapped terms
  • DOID:0050745
  • EFO:0000403
  • GARD:0003178
  • GARD:3178
  • ICD10:C83.3
  • ICD9:200.7
  • ICDO:9680/3
  • MEDGEN:86954
  • MESH:D016403
  • MONDO:0018905
  • MedDRA:10012818
  • NCIT:C8851
  • Orphanet:544
  • UMLS:C0079744
  • icd11.foundation:1946973604

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)
PGS002303
(PRS9_DLBCL)
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Diffuse large B-cell lymphoma diffuse large B-cell lymphoma 9
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002303/ScoringFiles/PGS002303.txt.gz
PGS003454
(PRS5_DLBCL)
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Diffuse large B-cell lymphoma diffuse large B-cell lymphoma 5
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003454/ScoringFiles/PGS003454.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
PPM013032 PGS002303
(PRS9_DLBCL)
 PSS009657|
European Ancestry|
308 individuals
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Reported Trait: Diffuse large B-cell lymphoma — AUROC: 0.56 [0.53, 0.6] — — —
PPM013040 PGS002303
(PRS9_DLBCL)
 PSS009657|
European Ancestry|
308 individuals
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Reported Trait: Diffuse large B-cell lymphoma — — Hazard ratio (HR top 5% vs average): 1.6 [1.01, 2.54] Age, birth cohort, genotyping array, top 10 PCs for ancestry and sex (for nonsex specific cancer only) —
PPM017225 PGS003454
(PRS5_DLBCL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Chronic lymphocytic leukemia OR: 1.33 [1.14, 1.54] — — — —
PPM017233 PGS003454
(PRS5_DLBCL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Diffuse large B-cell lymphoma OR: 2.69 [2.35, 3.08] — — — —
PPM017249 PGS003454
(PRS5_DLBCL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Marginal zone lymphoma OR: 2.1 [1.63, 2.72] — — — —
PPM017241 PGS003454
(PRS5_DLBCL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Follicular lymphoma OR: 1.66 [1.42, 1.94] — — — —

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
PSS009657 diffuse large B-cell lymphoma (ICD-10 = C83.3) — 308 individuals — European — UKB —
PSS010176 — —
[
  • 10,629 cases
  • , 9,505 controls
]
 — European — NR Inter- Lymph Consortium