Experimental Factor Ontology (EFO) Information | |
Identifier | EFO_0005543 |
Description | A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas. [NCIT: C3059] | Trait categories |
Cancer
Neurological disorder
|
Synonyms |
13 synonyms
|
Mapped terms |
11 mapped terms
|
Child trait(s) | glioblastoma |
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) |
---|---|---|---|---|---|---|
PGS000155 (cGRS_Glioma) |
PGP000075 | Shi Z et al. Cancer Med (2019) |
Glioma | glioma | 19 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000155/ScoringFiles/PGS000155.txt.gz |
PGS000781 (GRS7_Glio) |
PGP000185 | Adel Fahmideh M et al. Sci Rep (2019) |
Glioma | brain neoplasm, glioma |
5 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000781/ScoringFiles/PGS000781.txt.gz |
PGS002302 (PRS28_glioma) |
PGP000328 | Choi J et al. Int J Cancer (2020) |
Glioma | glioma | 28 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002302/ScoringFiles/PGS002302.txt.gz |
PGS003384 (best_GBM) |
PGP000413 | Namba S et al. Cancer Res (2022) |
Glioblastoma | glioblastoma | 910 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003384/ScoringFiles/PGS003384.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 |
---|---|---|---|---|---|---|---|---|---|
PPM000475 | PGS000155 (cGRS_Glioma) |
PSS000275| European Ancestry| 14,419 individuals |
PGP000075 | Shi Z et al. Cancer Med (2019) |
Reported Trait: Glioma | — | — | Mean realative risk: 1.22 [1.18, 1.26] Wilcoxon test (case vs. control) p-value: 1.39e-37 |
— | — |
PPM000486 | PGS000155 (cGRS_Glioma) |
PSS000275| European Ancestry| 14,419 individuals |
PGP000075 | Shi Z et al. Cancer Med (2019) |
Reported Trait: Glioma | — | — | Odds Ratio (OR; high vs. average risk groups): 1.8 [1.55, 2.1] | — | — |
PPM002036 | PGS000781 (GRS7_Glio) |
PSS001009| Multi-ancestry (including European)| 734 individuals |
PGP000185 | Adel Fahmideh M et al. Sci Rep (2019) |
Reported Trait: Pediatric brain tumors | OR: 1.25 [1.06, 1.49] | — | R²: 0.012 | Age, sex, country | — |
PPM013031 | PGS002302 (PRS28_glioma) |
PSS009663| European Ancestry| 312 individuals |
PGP000328 | Choi J et al. Int J Cancer (2020) |
Reported Trait: Glioma | — | AUROC: 0.61 [0.57, 0.64] | — | — | — |
PPM013039 | PGS002302 (PRS28_glioma) |
PSS009663| European Ancestry| 312 individuals |
PGP000328 | Choi J et al. Int J Cancer (2020) |
Reported Trait: Glioma | — | — | Hazard ratio (HR top 5% vs average): 2.55 [1.72, 3.77] | Age, birth cohort, genotyping array, top 10 PCs for ancestry and sex (for nonsex specific cancer only) | — |
PPM016259 | PGS003384 (best_GBM) |
PSS010078| European Ancestry| 269,806 individuals |
PGP000413 | Namba S et al. Cancer Res (2022) |
Reported Trait: glioblastoma | — | AUROC: 0.758 | R²: 0.0216 | age, sex, top 20 genetic principal components | — |
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 |
---|---|---|---|---|---|---|---|---|
PSS009663 | glioma (ICD-9 = 191 or ICD-10 = C71; ICD-O: 9380-9480) | — | 312 individuals | — | European | — | UKB | — |
PSS010078 | C71, histology was either Giant cell glioblastoma or Glioblastoma (NOS) | — | [
|
— | European (British) |
— | UKB | Controls were samples without any cancer diagnosis or self-reported cancer |
PSS000275 | Primary tumor samples from TCGA | — | [
|
Mean = 52.0 years Sd = 16.0 years |
European | — | TCGA | — |
PSS000275 | — | — | [
|
— | European | — | eMERGE | — |
PSS001009 | Cases include participants with the following tumors: Astrocytomas (ICCC-3 group IIIb), Other gliomas (ICCC-3 group IIId), Ependymomas (ICCC-3 group IIIa), Intracranial embryonal tumors (ICCC-3 group IIIc), other specified intracranial neoplasms (ICCC-3 group IIIe), unspecified intracranial neoplasms (ICCC-3 group IIIf) | — | [ ,
54.09 % Male samples |
— | European, NR | European = 454, NR =280 | CEFALO | — |