Trait: marginal zone B-cell lymphoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_1000630
Description A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. [NCIT: C4341]
Trait categories
Cancer
Digestive system disorder
Immune system disorder
Synonyms 6 synonyms
  • MZBCL
  • MZL
  • lymphoma of marginal zone B cell
  • marginal zone B cell lymphoma
  • marginal zone B-cell lymphoma
  • marginal zone lymphoma
Mapped terms 11 mapped terms
  • DOID:0050748
  • EFO:1000630
  • GARD:0013237
  • GARD:13237
  • ICDO:9699/3
  • MONDO:0017604
  • NCIT:C4341
  • ONCOTREE:MZL
  • Orphanet:300912
  • SCTID:447100004
  • UMLS:C1367654

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
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Additional Asian Ancestries
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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)
PGS003451
(PRS2_MZL)
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Marginal zone lymphoma marginal zone B-cell lymphoma 2
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003451/ScoringFiles/PGS003451.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
PPM017227 PGS003451
(PRS2_MZL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Chronic lymphocytic leukemia OR: 1.26 [1.09, 1.46] — — — —
PPM017235 PGS003451
(PRS2_MZL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Diffuse large B-cell lymphoma OR: 1.53 [1.34, 1.75] — — — —
PPM017243 PGS003451
(PRS2_MZL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Follicular lymphoma OR: 1.39 [1.21, 1.61] — — — —
PPM017251 PGS003451
(PRS2_MZL)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Marginal zone lymphoma OR: 2.43 [1.93, 3.06] — — — —

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
PSS010176 — —
[
  • 10,629 cases
  • , 9,505 controls
]
 — European — NR Inter- Lymph Consortium