| Trait Information | |
| Identifier | MONDO_0004949 |
| Description | A neoplasm of follicle center B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001). [NCIT: P378] | Trait category |
Other trait
|
| Synonyms |
3 synonyms
|
| Child trait(s) | 4 child traits |
| 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) |
|---|---|---|---|---|---|---|
| PGS000643 (PRSWEB_PHECODE202.21_C-FOLLICULAR-LYMPHOMA_PRS-CS_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Nodular lymphoma | follicular lymphoma | 1,048,780 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000643/ScoringFiles/PGS000643.txt.gz | |
| PGS000644 (PRSWEB_PHECODE202.21_C-FOLLICULAR-LYMPHOMA_LASSOSUM_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Nodular lymphoma | follicular lymphoma | 2,209,179 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000644/ScoringFiles/PGS000644.txt.gz | |
| PGS000646 (PRSWEB_PHECODE204.12_GWAS-Catalog-r2019-05-03-X204.12_P_5e-08_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Chronic lymphocytic leukemia | B-cell chronic lymphocytic leukemia | 32 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000646/ScoringFiles/PGS000646.txt.gz | |
| PGS000647 (PRSWEB_PHECODE204.12_GWAS-Catalog-r2019-05-03-X204.12_P_5e-08_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Chronic lymphocytic leukemia | B-cell chronic lymphocytic leukemia | 32 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000647/ScoringFiles/PGS000647.txt.gz | |
| PGS000648 (PRSWEB_PHECODE204.12_GWAS-Catalog-r2019-05-03-X204.12_PT_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Chronic lymphocytic leukemia | B-cell chronic lymphocytic leukemia | 44 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000648/ScoringFiles/PGS000648.txt.gz | |
| PGS000649 (PRSWEB_PHECODE204.12_GWAS-Catalog-r2019-05-03-X204.12_PT_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Chronic lymphocytic leukemia | B-cell chronic lymphocytic leukemia | 27 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000649/ScoringFiles/PGS000649.txt.gz | |
| PGS000650 (PRSWEB_PHECODE204.12_UKBB-SAIGE-HRC-X204.12_PT_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Chronic lymphocytic leukemia | B-cell chronic lymphocytic leukemia | 6 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000650/ScoringFiles/PGS000650.txt.gz | |
| PGS000651 (PRSWEB_PHECODE204.12_UKBB-SAIGE-HRC-X204.12_LASSOSUM_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Chronic lymphocytic leukemia | B-cell chronic lymphocytic leukemia | 76 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000651/ScoringFiles/PGS000651.txt.gz | |
| PGS000652 (PRSWEB_PHECODE204.4_C90_PT_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Multiple myeloma | plasma cell 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 | plasma cell 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 | plasma cell myeloma | 21 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000654/ScoringFiles/PGS000654.txt.gz | |
| PGS000874 (PRS41_CLL) |
PGP000220 | Kleinstern G et al. Blood (2018) |
Chronic lymphocytic leukemia | B-cell chronic lymphocytic leukemia | 41 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000874/ScoringFiles/PGS000874.txt.gz |
| PGS002281 (PRS23_MM) |
PGP000310 | Canzian F et al. Eur J Hum Genet (2021) |
Multiple myeloma | plasma cell myeloma | 23 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002281/ScoringFiles/PGS002281.txt.gz |
| 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 |
| PGS002304 (PRS6_FL) |
PGP000328 | Choi J et al. Int J Cancer (2020) |
Follicular lymphoma | follicular lymphoma | 6 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002304/ScoringFiles/PGS002304.txt.gz |
| PGS002306 (PRS23_MM) |
PGP000328 | Choi J et al. Int J Cancer (2020) |
Multiple myeloma | plasma cell 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 | plasma cell myeloma | 24 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003450/ScoringFiles/PGS003450.txt.gz |
| PGS003453 (PRS43_CLL) |
PGP000448 | Berndt SI et al. Leukemia (2022) |
Chronic lymphocytic leukemia | B-cell chronic lymphocytic leukemia | 43 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003453/ScoringFiles/PGS003453.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 |
| PGS003455 (PRS7_FL) |
PGP000448 | Berndt SI et al. Leukemia (2022) |
Follicular lymphoma | follicular lymphoma | 7 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003455/ScoringFiles/PGS003455.txt.gz |
|
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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM001328 | PGS000643 (PRSWEB_PHECODE202.21_C-FOLLICULAR-LYMPHOMA_PRS-CS_MGI_20200608) |
PSS000560| European Ancestry| 3,256 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Nodular lymphoma | OR: 1.133 [1.005, 1.277] β: 0.125 (0.061) |
AUROC: 0.532 [0.497, 0.568] | Nagelkerke's Pseudo-R²: 0.00282 Brier score: 0.0825 Odds Ratio (OR, top 1% vs. Rest): 2.49 [1.1, 5.65] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE202.21_C-FOLLICULAR-LYMPHOMA_PRS-CS_MGI_20200608 |
| PPM001329 | PGS000644 (PRSWEB_PHECODE202.21_C-FOLLICULAR-LYMPHOMA_LASSOSUM_MGI_20200608) |
PSS000560| European Ancestry| 3,256 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Nodular lymphoma | OR: 1.149 [1.021, 1.294] β: 0.139 (0.0606) |
AUROC: 0.538 [0.504, 0.573] | Nagelkerke's Pseudo-R²: 0.00349 Brier score: 0.0825 Odds Ratio (OR, top 1% vs. Rest): 1.48 [0.538, 4.05] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE202.21_C-FOLLICULAR-LYMPHOMA_LASSOSUM_MGI_20200608 |
| PPM001331 | PGS000646 (PRSWEB_PHECODE204.12_GWAS-Catalog-r2019-05-03-X204.12_P_5e-08_MGI_20200608) |
PSS000561| European Ancestry| 756 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Lymphoid leukemia, chronic | OR: 2.104 [1.628, 2.718] β: 0.744 (0.131) |
AUROC: 0.696 [0.628, 0.765] | Nagelkerke's Pseudo-R²: 0.0973 Brier score: 0.0779 Odds Ratio (OR, top 1% vs. Rest): 11.3 [3.76, 33.9] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE204.12_GWAS-Catalog-r2019-05-03-X204.12_P_5e-08_MGI_20200608 |
| PPM001332 | PGS000647 (PRSWEB_PHECODE204.12_GWAS-Catalog-r2019-05-03-X204.12_P_5e-08_UKB_20200608) |
PSS000581| European Ancestry| 2,758 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Lymphoid leukemia, chronic | OR: 1.874 [1.639, 2.144] β: 0.628 (0.0685) |
AUROC: 0.675 [0.64, 0.707] | Nagelkerke's Pseudo-R²: 0.0689 Brier score: 0.0795 Odds Ratio (OR, top 1% vs. Rest): 4.11 [1.97, 8.6] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE204.12_GWAS-Catalog-r2019-05-03-X204.12_P_5e-08_UKB_20200608 |
| PPM001333 | PGS000648 (PRSWEB_PHECODE204.12_GWAS-Catalog-r2019-05-03-X204.12_PT_MGI_20200608) |
PSS000561| European Ancestry| 756 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Lymphoid leukemia, chronic | OR: 2.124 [1.648, 2.738] β: 0.753 (0.13) |
AUROC: 0.696 [0.621, 0.764] | Nagelkerke's Pseudo-R²: 0.102 Brier score: 0.0776 Odds Ratio (OR, top 1% vs. Rest): 12.9 [4.45, 37.6] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE204.12_GWAS-Catalog-r2019-05-03-X204.12_PT_MGI_20200608 |
| PPM001334 | PGS000649 (PRSWEB_PHECODE204.12_GWAS-Catalog-r2019-05-03-X204.12_PT_UKB_20200608) |
PSS000581| European Ancestry| 2,758 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Lymphoid leukemia, chronic | OR: 1.85 [1.619, 2.114] β: 0.615 (0.0681) |
AUROC: 0.672 [0.637, 0.703] | Nagelkerke's Pseudo-R²: 0.0665 Brier score: 0.0796 Odds Ratio (OR, top 1% vs. Rest): 2.52 [1.04, 6.08] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE204.12_GWAS-Catalog-r2019-05-03-X204.12_PT_UKB_20200608 |
| PPM001335 | PGS000650 (PRSWEB_PHECODE204.12_UKBB-SAIGE-HRC-X204.12_PT_MGI_20200608) |
PSS000561| European Ancestry| 756 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Lymphoid leukemia, chronic | OR: 1.368 [1.097, 1.705] β: 0.313 (0.113) |
AUROC: 0.577 [0.511, 0.645] | Nagelkerke's Pseudo-R²: 0.0205 Brier score: 0.0822 Odds Ratio (OR, top 1% vs. Rest): 2.0 [0.308, 13.0] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE204.12_UKBB-SAIGE-HRC-X204.12_PT_MGI_20200608 |
| PPM001336 | PGS000651 (PRSWEB_PHECODE204.12_UKBB-SAIGE-HRC-X204.12_LASSOSUM_MGI_20200608) |
PSS000561| European Ancestry| 756 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Lymphoid leukemia, chronic | OR: 1.32 [1.041, 1.675] β: 0.278 (0.121) |
AUROC: 0.573 [0.503, 0.644] | Nagelkerke's Pseudo-R²: 0.0145 Brier score: 0.0823 Odds Ratio (OR, top 1% vs. Rest): 4.84 [1.23, 19.0] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE204.12_UKBB-SAIGE-HRC-X204.12_LASSOSUM_MGI_20200608 |
| 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 |
| PPM002493 | PGS000874 (PRS41_CLL) |
PSS001123| Multi-ancestry (including European)| 3,958 individuals |
PGP000220 | Kleinstern G et al. Blood (2018) |
Reported Trait: Chronic lymphocytic leukemia | OR: 2.49 [2.28, 2.8] | C-index: 0.79 [0.78, 0.8] | — | Age, sex, study, socioeconomic status (when available) | Odds Ratio (OR, top 20% vs middle 20%) = 3.64 [2.94 - 4.51] |
| PPM002494 | PGS000874 (PRS41_CLL) |
PSS001123| Multi-ancestry (including European)| 3,958 individuals |
PGP000220 | Kleinstern G et al. Blood (2018) |
Reported Trait: Chronic lymphocytic leukemia in individuals with no family history of hematological cancers | OR: 2.46 [2.19, 2.76] | C-index: 0.791 [0.77, 0.81] | — | Age, sex, study, socioeconomic status (when available) | Odds Ratio (OR, top 20% vs middle 20%) = 3.29 [2.49 - 4.35] |
| PPM002495 | PGS000874 (PRS41_CLL) |
PSS001123| Multi-ancestry (including European)| 3,958 individuals |
PGP000220 | Kleinstern G et al. Blood (2018) |
Reported Trait: Chronic lymphocytic leukemia in individuals with a family history of hematological cancers | OR: 3.79 [2.44, 5.87] | C-index: 0.861 [0.82, 0.9] | — | Age, sex, study, socioeconomic status (when available) | Odds Ratio (OR, top 20% vs middle 20%) = 7.58 [2.74 - 21.0] |
| PPM002496 | PGS000874 (PRS41_CLL) |
PSS001121| Ancestry Not Reported| 218 individuals |
PGP000220 | Kleinstern G et al. Blood (2018) |
Reported Trait: Chronic lymphocytic leukemia | OR: 2.44 [1.65, 3.62] | C-index: 0.798 [0.74, 0.85] | — | Age, sex, study, socioeconomic status (when available) | Odds Ratio (OR, top 20% vs middle 20%) = 3.51 [1.39 - 8.86] |
| PPM002497 | PGS000874 (PRS41_CLL) |
PSS001122| Ancestry Not Reported| 153 individuals |
PGP000220 | Kleinstern G et al. Blood (2018) |
Reported Trait: Monoclonal B-cell lymphocytosis | OR: 2.3 [1.44, 3.67] | C-index: 0.773 [0.7, 0.85] | — | Age, sex, study, socioeconomic status (when available) | Odds Ratio (OR, top 20% vs middle 20%) = 4.36 [1.45 - 13.1] |
| PPM002498 | PGS000874 (PRS41_CLL) |
PSS001119| Ancestry Not Reported| 1,468 individuals |
PGP000220 | Kleinstern G et al. Blood (2018) |
Reported Trait: Chronic lymphocytic leukemia | OR: 3.02 [2.49, 3.65] | C-index: 0.779 [0.74, 0.81] | — | Age, sex | Odds Ratio (OR, top 20% vs middle 20%) = 4.47 [2.76 - 7.24] |
| PPM002499 | PGS000874 (PRS41_CLL) |
PSS001120| Ancestry Not Reported| 1,362 individuals |
PGP000220 | Kleinstern G et al. Blood (2018) |
Reported Trait: Monoclonal B-cell lymphocytosis | OR: 2.81 [2.18, 3.61] | C-index: 0.774 [0.73, 0.82] | — | Age, sex | Odds Ratio (OR, top 20% vs middle 20%) = 4.34 [2.21 - 8.50] |
| PPM002654 | PGS000874 (PRS41_CLL) |
PSS001173| European Ancestry| 3,191 individuals |
PGP000234 | Kleinstern G et al. Leukemia (2021) |Ext. |
Reported Trait: Monoclonal B-cell lymphocytosis | OR: 1.86 [1.67, 2.07] | C-index: 0.72 [0.69, 0.73] | Odds Ratio (OR, top 20% vs middle 20%): 2.38 [1.81, 3.13] | Age, sex | — |
| PPM002655 | PGS000874 (PRS41_CLL) |
PSS001173| European Ancestry| 3,191 individuals |
PGP000234 | Kleinstern G et al. Leukemia (2021) |Ext. |
Reported Trait: Monoclonal B-cell lymphocytosis | OR: 1.15 [1.13, 1.18] | C-index: 0.72 [0.7, 0.74] | — | Age, sex | An unweighted version of PRS41_CLL was used. |
| PPM002656 | PGS000874 (PRS41_CLL) |
PSS001173| European Ancestry| 3,191 individuals |
PGP000234 | Kleinstern G et al. Leukemia (2021) |Ext. |
Reported Trait: Low-count monoclonal B-cell lymphocytosis | OR: 1.75 [1.55, 1.98] | C-index: 0.72 [0.7, 0.75] | Odds Ratio (OR, top 20% vs middle 20%): 2.1 [1.53, 2.88] | Age, sex | — |
| PPM002657 | PGS000874 (PRS41_CLL) |
PSS001173| European Ancestry| 3,191 individuals |
PGP000234 | Kleinstern G et al. Leukemia (2021) |Ext. |
Reported Trait: Low-count monoclonal B-cell lymphocytosis | OR: 1.14 [1.11, 1.17] | C-index: 0.72 [0.7, 0.75] | — | Age, sex | An unweighted version of PRS41_CLL was used. |
| PPM002658 | PGS000874 (PRS41_CLL) |
PSS001173| European Ancestry| 3,191 individuals |
PGP000234 | Kleinstern G et al. Leukemia (2021) |Ext. |
Reported Trait: High-count monoclonal B-cell lymphocytosis | OR: 2.14 [1.8, 2.56] | C-index: 0.73 [0.69, 0.77] | Odds Ratio (OR, top 20% vs middle 20%): 3.13 [1.97, 4.98] | Age, sex | — |
| PPM002659 | PGS000874 (PRS41_CLL) |
PSS001173| European Ancestry| 3,191 individuals |
PGP000234 | Kleinstern G et al. Leukemia (2021) |Ext. |
Reported Trait: High-count monoclonal B-cell lymphocytosis | OR: 1.19 [1.14, 1.23] | C-index: 0.725 [0.69, 0.77] | — | Age, sex | An unweighted version of PRS41_CLL was used. |
| PPM002660 | PGS000874 (PRS41_CLL) |
PSS001172| European Ancestry| 3,327 individuals |
PGP000234 | Kleinstern G et al. Leukemia (2021) |Ext. |
Reported Trait: Chronic lymphocytic leukemia | OR: 2.53 [2.27, 2.81] | C-index: 0.77 [0.75, 0.79] | Odds Ratio (OR, top 20% vs middle 20%): 3.49 [2.70, 4.51] | Age, sex | — |
| PPM002661 | PGS000874 (PRS41_CLL) |
PSS001172| European Ancestry| 3,327 individuals |
PGP000234 | Kleinstern G et al. Leukemia (2021) |Ext. |
Reported Trait: Chronic lymphocytic leukemia | OR: 1.23 [1.2, 1.26] | C-index: 0.775 [0.76, 0.79] | — | Age, sex | An unweighted version of PRS41_CLL was used. |
| PPM002662 | PGS000874 (PRS41_CLL) |
PSS001171| African Ancestry| 408 individuals |
PGP000234 | Kleinstern G et al. Leukemia (2021) |Ext. |
Reported Trait: Chronic lymphocytic leukemia | OR: 1.76 [1.34, 2.31] | C-index: 0.62 [0.57, 0.68] | — | Age, sex | — |
| PPM002663 | PGS000874 (PRS41_CLL) |
PSS001171| African Ancestry| 408 individuals |
PGP000234 | Kleinstern G et al. Leukemia (2021) |Ext. |
Reported Trait: Chronic lymphocytic leukemia | OR: 1.07 [1.01, 1.13] | C-index: 0.57 [0.53, 0.64] | — | Age, sex | An unweighted version of PRS41_CLL was used. |
| 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) |
| 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) | — |
| PPM013033 | PGS002304 (PRS6_FL) |
PSS009658| European Ancestry| 197 individuals |
PGP000328 | Choi J et al. Int J Cancer (2020) |
Reported Trait: Follicular lymphoma | — | AUROC: 0.61 [0.59, 0.63] | — | — | — |
| PPM013041 | PGS002304 (PRS6_FL) |
PSS009658| European Ancestry| 197 individuals |
PGP000328 | Choi J et al. Int J Cancer (2020) |
Reported Trait: Follicular lymphoma | — | — | Hazard ratio (HR top 5% vs average): 2.33 [1.38, 3.93] | Age, birth cohort, genotyping array, top 10 PCs for ancestry and sex (for nonsex specific cancer only) | — |
| 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] | — | — | — | — |
| PPM017224 | PGS003453 (PRS43_CLL) |
PSS010176| European Ancestry| 20,134 individuals |
PGP000448 | Berndt SI et al. Leukemia (2022) |
Reported Trait: Chronic lymphocytic leukemia | OR: 2.17 [2.07, 2.28] | — | — | — | — |
| PPM017232 | PGS003453 (PRS43_CLL) |
PSS010176| European Ancestry| 20,134 individuals |
PGP000448 | Berndt SI et al. Leukemia (2022) |
Reported Trait: Diffuse large B-cell lymphoma | OR: 1.17 [1.12, 1.22] | — | — | — | — |
| PPM017240 | PGS003453 (PRS43_CLL) |
PSS010176| European Ancestry| 20,134 individuals |
PGP000448 | Berndt SI et al. Leukemia (2022) |
Reported Trait: Follicular lymphoma | OR: 1.12 [1.07, 1.17] | — | — | — | — |
| PPM017248 | PGS003453 (PRS43_CLL) |
PSS010176| European Ancestry| 20,134 individuals |
PGP000448 | Berndt SI et al. Leukemia (2022) |
Reported Trait: Marginal zone lymphoma | OR: 1.15 [1.07, 1.24] | — | — | — | — |
| 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] | — | — | — | — |
| PPM017226 | PGS003455 (PRS7_FL) |
PSS010176| European Ancestry| 20,134 individuals |
PGP000448 | Berndt SI et al. Leukemia (2022) |
Reported Trait: Chronic lymphocytic leukemia | OR: 1.07 [0.98, 1.17] | — | — | — | — |
| PPM017234 | PGS003455 (PRS7_FL) |
PSS010176| European Ancestry| 20,134 individuals |
PGP000448 | Berndt SI et al. Leukemia (2022) |
Reported Trait: Diffuse large B-cell lymphoma | OR: 1.28 [1.19, 1.39] | — | — | — | — |
| PPM017242 | PGS003455 (PRS7_FL) |
PSS010176| European Ancestry| 20,134 individuals |
PGP000448 | Berndt SI et al. Leukemia (2022) |
Reported Trait: Follicular lymphoma | OR: 2.77 [2.52, 3.04] | — | — | — | — |
| PPM017250 | PGS003455 (PRS7_FL) |
PSS010176| European Ancestry| 20,134 individuals |
PGP000448 | Berndt SI et al. Leukemia (2022) |
Reported Trait: Marginal zone lymphoma | OR: 0.94 [0.81, 1.09] | — | — | — | — |
|
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 | — |
| PSS009658 | follicular lymphoma (ICD- 10 = C82 or ICD-O: 9690) | — | 197 individuals | — | European | — | UKB | — |
| PSS009659 | multiple myeloma (ICD-9 = 203 or ICD-10 = C90.0) | — | 290 individuals | — | European | — | UKB | — |
| PSS000560 | PheCode:202.21; ICD9CM:202.00, 202.01, 202.02, 202.03, 202.04, 202.05, 202.06, 202.07, 202.08; ICD10CM:C82, C82.0, C82.00, C82.01, C82.02, C82.03, C82.04, C82.05, C82.06, C82.07, C82.08, C82.09, C82.1, C82.10, C82.11, C82.12, C82.13, C82.14, C82.15, C82.16, C82.17, C82.18, C82.19, C82.2, C82.20, C82.21, C82.22, C82.23, C82.24, C82.25, C82.26, C82.27, C82.28, C82.29, C82.3, C82.30, C82.31, C82.32, C82.33, C82.34, C82.35, C82.36, C82.37, C82.38, C82.39, C82.4, C82.40, C82.41, C82.42, C82.43, C82.44, C82.45, C82.46, C82.47, C82.48, C82.49, C82.5, C82.50, C82.51, C82.52, C82.53, C82.54, C82.55, C82.56, C82.57, C82.58, C82.59, C82.6, C82.60, C82.61, C82.62, C82.63, C82.64, C82.65, C82.66, C82.67, C82.68, C82.69, C82.8, C82.80, C82.81, C82.82, C82.83, C82.84, C82.85, C82.86, C82.87, C82.88, C82.89, C82.9, C82.90, C82.91, C82.92, C82.93, C82.94, C82.95, C82.96, C82.97, C82.98, C82.99 | — | [
|
— | European | — | MGI | — |
| PSS000561 | PheCode:204.12; ICD9CM:204.10, 204.11, 204.12; ICD10CM:C91.1, C91.10, C91.11, C91.12 | — | [
|
— | European | — | MGI | — |
| 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 | — | [
|
— | European | — | MGI | — |
| PSS009636 | — | — | [
|
— | European | — | NR | International Multiple Myeloma rESEarch (IMMEnSE) consortium |
| PSS010176 | — | — | [
|
— | European | — | NR | Inter- Lymph Consortium |
| PSS001119 | Cases were individuals with chronic lymphocytic leukemia. | — | [
|
— | Not reported | — | MAYO | Cases were obtained from the Genetic Epidemiology of CLL (GEC) Consortium |
| PSS001120 | Cases were individuals with monoclonal B-cell lymphocytosis. | — | [
|
— | Not reported | — | MAYO | Cases were obtained from the Genetic Epidemiology of CLL (GEC) Consortium |
| PSS001121 | Cases were individuals with chronic lymphocytic leukemia. | — | [
|
— | Not reported | — | NR | Cases and controls were obtained from the Genetic Epidemiology of CLL (GEC) Consortium |
| PSS001122 | Cases were individuals with monoclonal B-cell lymphocytosis. | — | [
|
— | Not reported | — | NR | Cases and controls were obtained from the Genetic Epidemiology of CLL (GEC) Consortium |
| PSS001123 | Cases were individuals with chronic lymphocytic leukemia (CLL). Of the 3,958 individuals, 242 had a family history (FH) of hematological cancers, whereas 2,409 had no FH of hematological cancers. Of the 242 individuals with a FH, 112 had CLL. Of the 2,409 without a FH, 783 had CLL. FH was defined as a person self-reporting any hematological maligcancy among first-degree relatives. Hematological malignancies were defined as any non-Hodgkin lymphoma, Hodgkin lymphoma, multiple myeloma, or leukemia. | — | [ ,
60.81 % Male samples |
— | European, NR | — | 8 cohorts
|
Possible significant sample overlap between this dataset and the dataset used to source PRS41_CLL. |
| PSS001171 | Cases were individuals with chronic lymphocytic leukemia (CLL). CLL diagnoses were made based on the 1996 NCI working group criteria and updated to the 2008 International Workshop CLL criteria wherever possible. | — | [ ,
66.91 % Male samples |
— | African American or Afro-Caribbean | — | MAYO | Possibly significant sample overlap between this dataset and the dataset used to source PRS41_CLL. Additional cases were obtained from Duke University and Cornell |
| PSS001172 | Cases were individuals with chronic lymphocytic leukemia (CLL). CLL diagnoses were made based on the 1996 NCI working group criteria and updated to the 2008 International Workshop CLL criteria wherever possible. | — | [ ,
45.36 % Male samples |
— | European | — | MAYO | Possibly significant sample overlap between this dataset and the dataset used to source PRS41_CLL. Additional cases were obtained from Duke University and Cornell |
| PSS001173 | Cases were individuals with monoclonal B-cell lymphocytosis (MBL) from two Mayo Clincs.Within the Mayo Clinic Biobank, MBL was screened for using a highly sensitive, 8-color (CD38, CD45, Kappa, Lambda, CD19, CD23, CD5 and CD20) flow-cytometry assay with the capacity to detect clonal B-cell counts to the 0.005% level (1/20,000 events), and for each individual, 500,000 PBMC events were typically captured. Of the 560 MBL cases, 396 had low-count MBL (LC-MBL) and 164 had high-count MBL (HC-MBL). Wiithin the Mayo Clinic Biobank only a subset of participants had a complete blood count. therefore the percent of clonal B-cells out of total B-cells was used to categorize participants as LC- and HC-MBL. Based on prior evidence, those MBL individuals with a percent clonal B-cell <85% were defined as LC-MBL and those with percent clonal B-cells ≥85% as HC-MBL. Within the Mayo Clinic Chronic lymphocytic leukemia (CLL) Resource, MBL was classified by LC-MBL or HC-MBL according to the B-cell clone size of below or above 0.5 × 109/L threshold, respectively. | — | [ ,
42.28 % Male samples |
— | European | — | MAYO | Possibly significant sample overlap between this dataset and the dataset used to source PRS41_CLL. |
| PSS000581 | PheCode:204.12; ICD9:204.1; ICD10:C91.1 | — | [
|
— | European | — | UKB | — |
| PSS000582 | PheCode:204.4; ICD9:203, 203.0, 203.8; ICD10:C88.1, C88.3, C88.9, C90.0, C90.2 | — | [
|
— | European | — | UKB | — |