Trait: multiple myeloma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0001378
Description A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001) [NCIT: C3242]
Trait category
Cancer
Immune system disorder
Synonyms 43 synonyms
  • Cell Myeloma, Plasma
  • Cell Myelomas, Plasma
  • Disease, Kahler
  • Kahler disease
  • Kahler's disease
  • MULT MYE W/O ACHV RMSON
  • MULT MYELM W/O REMISSION
  • Multiple Myelomas
  • Multiple myeloma (clinical)
  • Multiple myeloma (disorder)
  • Multiple myeloma without mention of having achieved remission
  • Multiple myeloma without mention of remission
  • Multiple myeloma, morphology (morphologic abnormality)
  • Multiple myeloma, no ICD-O subtype
  • Multiple myeloma, no ICD-O subtype (morphologic abnormality)
  • Myeloma
  • Myeloma Multiple
  • Myeloma, Multiple
  • Myeloma, NOS
  • Myeloma, Plasma Cell
  • Myeloma, Plasma-Cell
  • Myeloma-Multiple
  • Myeloma-Multiples
  • Myelomas, Multiple
  • Myelomas, Plasma Cell
  • Myelomas, Plasma-Cell
  • Myelomatoses
  • Myelomatosis
  • Plasma Cell Myeloma
  • Plasma Cell Myelomas
  • Plasma-Cell Myeloma
  • Plasma-Cell Myelomas
  • Plasmacytic myeloma
  • [M]Plasma cell myeloma
  • medullary plasmacytoma
  • multiple myeloma
  • multiple myeloma/plasma cell myeloma
  • myeloid neoplasm of plasma cell
  • myeloma
  • myeloma, plasma cell, malignant
  • myelomatosis
  • plasma cell myeloid neoplasm
  • plasma cell myeloma
Mapped term(s) 20 mapped terms
  • COHD:437233
  • DOID:9538
  • GARD:0007108
  • ICD10:C90
  • ICD10:C90.0
  • ICD10:C90.00
  • ICD9:203.0
  • ICDO:9732/3
  • MESH:D009101
  • MONDO:0009693
  • MSH:D009101
  • MedDRA:10028228
  • NCIT:C3242
  • NCIt:C3242
  • OMIM:254500
  • ONCOTREE:PCM
  • Orphanet:29073
  • SNOMEDCT:109989006
  • SNOMEDCT:55921005
  • UMLS:C0026764

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)
PGS000652 PRSWEB_PHECODE204.4_C90_PT_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Multiple myeloma multiple myeloma 27 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000652/ScoringFiles/PGS000652.txt.gz
PGS000653 PRSWEB_PHECODE204.4_GWAS-Catalog-r2019-05-03-X204.4_P_5e-08_UKB_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Multiple myeloma multiple myeloma 22 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000653/ScoringFiles/PGS000653.txt.gz
PGS000654 PRSWEB_PHECODE204.4_GWAS-Catalog-r2019-05-03-X204.4_PT_UKB_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Multiple myeloma multiple myeloma 21 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000654/ScoringFiles/PGS000654.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
PPM001339 PGS000654 (PRSWEB_PHECODE204.4_GWAS-Catalog-r2019-05-03-X204.4_PT_UKB_20200608) PSS000582 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Multiple myeloma OR: 1.316 [1.156, 1.499]
β: 0.275 (0.0662)
AUROC: 0.576 [0.536, 0.616] Nagelkerke's Pseudo-R²: 0.0137
Brier score: 0.0818
Odds Ratio (OR, top 1% vs. Rest): 2.2 [0.854, 5.66]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE204.4_GWAS-Catalog-r2019-05-03-X204.4_PT_UKB_20200608
PPM001338 PGS000653 (PRSWEB_PHECODE204.4_GWAS-Catalog-r2019-05-03-X204.4_P_5e-08_UKB_20200608) PSS000582 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Multiple myeloma OR: 1.327 [1.165, 1.511]
β: 0.283 (0.0663)
AUROC: 0.577 [0.537, 0.617] Nagelkerke's Pseudo-R²: 0.0145
Brier score: 0.0818
Odds Ratio (OR, top 1% vs. Rest): 2.2 [0.855, 5.66]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE204.4_GWAS-Catalog-r2019-05-03-X204.4_P_5e-08_UKB_20200608
PPM001337 PGS000652 (PRSWEB_PHECODE204.4_C90_PT_MGI_20200608) PSS000563 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Multiple myeloma OR: 1.24 [1.005, 1.529]
β: 0.215 (0.107)
AUROC: 0.547 [0.479, 0.613] Nagelkerke's Pseudo-R²: 0.00945
Brier score: 0.0823
Odds Ratio (OR, top 1% vs. Rest): 2.6 [0.593, 11.4]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE204.4_C90_PT_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
PSS000563 PheCode:204.4; ICD9CM:203.00, 203.01, 203.02, 203.80, 203.81, 203.82; ICD10CM:C88.2, C88.3, C88.9, C90.0, C90.00, C90.01, C90.02, C90.2, C90.20, C90.21, C90.22, C90.30, C90.31, C90.32
[
  • 83 cases
  • , 825 controls
]
European MGI
PSS000582 PheCode:204.4; ICD9:203, 203.0, 203.8; ICD10:C88.1, C88.3, C88.9, C90.0, C90.2
[
  • 248 cases
  • , 2,490 controls
]
European UKB