Polygenic Score (PGS) ID: PGS000797

Predicted Trait
Reported Trait Thyroid cancer
Mapped Trait(s) thyroid carcinoma (EFO_0002892)
Released in PGS Catalog: May 28, 2021
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Score Details

Score Construction
PGS Name CC_Thyroid_IV
Development Method
Name 12 variants from Graff et al (PGS000087) with inverse variant weights
Parameters NR
Variants
Original Genome Build GRCh37
Number of Variants 12
Effect Weight Type Inverse-variance weighting
PGS Source
PGS Catalog Publication (PGP) ID PGP000186
Citation (link to publication) Kachuri L et al. Nat Commun (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
291,738 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST004144
Europe PMC: 28195142
 290,551 individuals European ICR, NBS, ODZH, RUNMC, deCODE
GWAS Catalog: GCST002102
Europe PMC: 23894154
 1,187 individuals European NR

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) 		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
PPM002068 PSS001025|
European Ancestry|
391,189 individuals
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
 Reported Trait: Incident thyroid cancer HR: 1.75 [1.53, 2.01] AUROC: 0.701
C-index: 0.692 (0.022)		 R²: 0.31 Age at assessment, sex,, genotyping array, PCs(1-15), body mass index (BMI <25 vs. 25≤BMI<30, BMI≥30) C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.

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
PSS001025 Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. —
[
  • 191 cases
  • , 390,998 controls
]
 — European — UKB —