PGS Publication: PGP000832

Publication Information (EuropePMC)
Title Leveraging large-scale datasets and single cell omics data to develop a polygenic score for cisplatin-induced ototoxicity.
PubMed ID 39380081(Europe PMC)
doi 10.1186/s40246-024-00679-5
Publication Date Oct. 8, 2024
Journal Hum Genomics
Author(s) Miao DNR, Wilke MAP, Pham J, Ladha F, Singh M, Arsenio J, Luca E, Dabdoub A, Yang W, Yang JJ, Drögemöller BI.
Released in PGS Catalog: July 15, 2026

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
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS018415
(pgscio)
 PGP000832 |
Miao DNR et al. Hum Genomics (2024)
 cisplatin-induced ototoxicity (CIO) ototoxicity,
response to cisplatin		 138,670
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018415/ScoringFiles/PGS018415.txt.gz
PGS018414
(pgshl)
 PGP000832 |
Miao DNR et al. Hum Genomics (2024)
 Hearing loss (HL) hearing loss disorder 2,370,365
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018414/ScoringFiles/PGS018414.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
PPM036592 PGS018415
(pgscio)
 PSS012317|
Multi-ancestry (including European)|
390 individuals
 PGP000832 |
Miao DNR et al. Hum Genomics (2024)
 Reported Trait: cisplatin-induced ototoxicity — — R²: 0.041
p-value: 6e-05		 — —
PPM036591 PGS018414
(pgshl)
 PSS012317|
Multi-ancestry (including European)|
390 individuals
 PGP000832 |
Miao DNR et al. Hum Genomics (2024)
 Reported Trait: cisplatin-induced ototoxicity — — R²: 0.023
p-value: 0.00293		 — —
PPM036593 PGS018414
(pgshl)
 PSS012318|
Ancestry Not Reported|
238 individuals
 PGP000832 |
Miao DNR et al. Hum Genomics (2024)
 Reported Trait: cisplatin-induced ototoxicity — — R²: 0.006
p-value: 0.52		 age at diagnosis , protocol (SJMB96 or SJMB03) , 10 principal components , craniospinal irradiation dose (CSI dose)*score —
PPM036594 PGS018415
(pgscio)
 PSS012318|
Ancestry Not Reported|
238 individuals
 PGP000832 |
Miao DNR et al. Hum Genomics (2024)
 Reported Trait: cisplatin-induced ototoxicity — AUROC: 0.732 [0.668, 0.797] R²: 0.024
p-value: 0.043		 age at diagnosis , protocol (SJMB96 or SJMB03) , 10 principal components , craniospinal irradiation dose (CSI dose)*score —

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
PSS012317 — —
[
  • 168 cases
  • , 222 controls
]
,
46.0 % Male samples
 — African American or Afro-Caribbean, European, Hispanic or Latin American 92% European and 8% non-European ancestry (African-American/African-Caribbean and Latin American) PCL —
PSS012318 — —
[
  • 93 cases
  • , 145 controls
]
,
62.0 % Male samples
 — Not reported — NR —