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 categories
Cancer
Immune system disorder
Synonyms 19 synonyms
  • Al amyloidosis
  • Kahler disease
  • Kahler's disease
  • Multiple Myeloma
  • amyloidosis, systemic
  • medullary plasmacytoma
  • multiple myeloma
  • multiple myeloma, resistance to, Somatic mutation
  • multiple myeloma, susceptibility to, Somatic mutation
  • multiple myeloma/plasma cell myeloma
  • myeloid neoplasm of plasma cell
  • myeloma
  • myeloma - multiple
  • myeloma, multiple
  • myeloma, multiple
  • myeloma, plasma cell, malignant
  • myelomatosis
  • plasma cell myeloid neoplasm
  • plasma cell myeloma
Mapped terms 22 mapped terms
  • COHD:437233
  • DOID:9538
  • EFO:0001378
  • GARD:0007108
  • GARD:7108
  • ICD10:C90.0
  • ICD10:C90.00
  • ICD10CM:C90.0
  • ICD9:203.0
  • ICDO:9732/3
  • MEDGEN:10122
  • MESH:D009101
  • MONDO:0009693
  • MedDRA:10028228
  • NCIT:C3242
  • NORD:1469
  • OMIM:254500
  • ONCOTREE:PCM
  • Orphanet:29073
  • UMLS:C0026764
  • icd11.foundation:1582389689
  • icd11.foundation:526287100

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)
PGS000652
(PRSWEB_PHECODE204.4_C90_PT_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Multiple myeloma multiple myeloma 27
https://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
https://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
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000654/ScoringFiles/PGS000654.txt.gz
PGS002281
(PRS23_MM)
 PGP000310 |
Canzian F et al. Eur J Hum Genet (2021)
 Multiple myeloma multiple myeloma 23
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002281/ScoringFiles/PGS002281.txt.gz
PGS002306
(PRS23_MM)
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Multiple myeloma multiple myeloma 23
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002306/ScoringFiles/PGS002306.txt.gz
PGS003450
(PRS24_MM)
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Multiple myeloma multiple myeloma 24
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003450/ScoringFiles/PGS003450.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
PPM001337 PGS000652
(PRSWEB_PHECODE204.4_C90_PT_MGI_20200608)
 PSS000563|
European Ancestry|
908 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (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
PPM001338 PGS000653
(PRSWEB_PHECODE204.4_GWAS-Catalog-r2019-05-03-X204.4_P_5e-08_UKB_20200608)
 PSS000582|
European Ancestry|
2,738 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (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
PPM001339 PGS000654
(PRSWEB_PHECODE204.4_GWAS-Catalog-r2019-05-03-X204.4_PT_UKB_20200608)
 PSS000582|
European Ancestry|
2,738 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (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
PPM012970 PGS002281
(PRS23_MM)
 PSS009636|
European Ancestry|
2,395 individuals
 PGP000310 |
Canzian F et al. Eur J Hum Genet (2021)
 Reported Trait: Multiple myeloma — AUROC: 0.644 [0.622, 0.666] Odds Ratio (OR, highest vs lowest quintiles): 3.18 [2.34, 4.33] Age, sex, and geographic region of origin Unweighted score (100% call rate)
PPM012971 PGS002281
(PRS23_MM)
 PSS009636|
European Ancestry|
2,395 individuals
 PGP000310 |
Canzian F et al. Eur J Hum Genet (2021)
 Reported Trait: Multiple myeloma — AUROC: 0.628 [0.605, 0.65] Odds Ratio (OR, highest vs lowest quintiles): 3.44 [2.53, 4.69] Age, sex, and geographic region of origin Weighted score (100% call rate)
PPM013035 PGS002306
(PRS23_MM)
 PSS009659|
European Ancestry|
290 individuals
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Reported Trait: Multiple myeloma — AUROC: 0.69 [0.64, 0.7] — — —
PPM013043 PGS002306
(PRS23_MM)
 PSS009659|
European Ancestry|
290 individuals
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Reported Trait: Multiple myeloma — — Hazard ratio (HR top 5% vs average): 2.41 [1.56, 3.72] Age, birth cohort, genotyping array, top 10 PCs for ancestry and sex (for nonsex specific cancer only) —
PPM017229 PGS003450
(PRS24_MM)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Chronic lymphocytic leukemia OR: 1.09 [1.02, 1.16] — — — —
PPM017237 PGS003450
(PRS24_MM)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Diffuse large B-cell lymphoma OR: 0.98 [0.93, 1.04] — — — —
PPM017245 PGS003450
(PRS24_MM)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Follicular lymphoma OR: 1.01 [0.95, 1.09] — — — —
PPM017253 PGS003450
(PRS24_MM)
 PSS010176|
European Ancestry|
20,134 individuals
 PGP000448 |
Berndt SI et al. Leukemia (2022)
 Reported Trait: Marginal zone lymphoma OR: 1.05 [0.94, 1.18] — — — —

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
PSS009659 multiple myeloma (ICD-9 = 203 or ICD-10 = C90.0) — 290 individuals — European — UKB —
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 —
PSS009636 — —
[
  • 1,426 cases
  • , 969 controls
]
 — European — NR International Multiple Myeloma rESEarch (IMMEnSE) consortium
PSS010176 — —
[
  • 10,629 cases
  • , 9,505 controls
]
 — European — NR Inter- Lymph Consortium
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 —