PGS Publication: PGP000220

Publication Information (EuropePMC)
Title Association of polygenic risk score with the risk of chronic lymphocytic leukemia and monoclonal B-cell lymphocytosis.
PubMed ID 29674426(Europe PMC)
doi 10.1182/blood-2017-11-814608
Publication Date April 19, 2018
Journal Blood
Author(s) Kleinstern G, Camp NJ, Goldin LR, Vachon CM, Vajdic CM, de Sanjose S, Weinberg JB, Benavente Y, Casabonne D, Liebow M, Nieters A, Hjalgrim H, Melbye M, Glimelius B, Adami HO, Boffetta P, Brennan P, Maynadie M, McKay J, Cocco PL, Shanafelt TD, Call TG, Norman AD, Hanson C, Robinson D, Chaffee KG, Brooks-Wilson AR, Monnereau A, Clavel J, Glenn M, Curtin K, Conde L, Bracci PM, Morton LM, Cozen W, Severson RK, Chanock SJ, Spinelli JJ, Johnston JB, Rothman N, Skibola CF, Leis JF, Kay NE, Smedby KE, Berndt SI, Cerhan JR, Caporaso N, Slager SL.
Released in PGS Catalog: Aug. 26, 2021

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

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS000874
(PRS41_CLL)
PGP000220 |
Kleinstern G et al. Blood (2018)
Chronic lymphocytic leukemia chronic lymphocytic leukemia 41
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000874/ScoringFiles/PGS000874.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
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]

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
PSS001119 Cases were individuals with chronic lymphocytic leukemia.
[
  • 201 cases
  • , 1,267 controls
]
Not reported MAYO Cases were obtained from the Genetic Epidemiology of CLL (GEC) Consortium
PSS001120 Cases were individuals with monoclonal B-cell lymphocytosis.
[
  • 95 cases
  • , 1,267 controls
]
Not reported MAYO Cases were obtained from the Genetic Epidemiology of CLL (GEC) Consortium
PSS001121 Cases were individuals with chronic lymphocytic leukemia.
[
  • 135 cases
  • , 83 controls
]
Not reported Cases and controls were obtained from the Genetic Epidemiology of CLL (GEC) Consortium
PSS001122 Cases were individuals with monoclonal B-cell lymphocytosis.
[
  • 95 cases
  • , 58 controls
]
Not reported 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.
[
  • 1,499 cases
  • , 2,459 controls
]
,
60.81 % Male samples
European, NR 8 cohorts
  • BC
  • ,ENGELA
  • ,EpiLymph
  • ,MAYO
  • ,NCI-SEER
  • ,NSW
  • ,SCALE
  • ,UCSF2
Possible significant sample overlap between this dataset and the dataset used to source PRS41_CLL.