Polygenic risk score (PRS)

Overview

A polygenic risk score (PRS) is a summary measure of an individual’s genetic predisposition to a trait or disease, computed as the weighted sum of risk alleles across many genetic variants (typically SNPs) identified by genome-wide association studies (GWAS). Weights are derived from GWAS effect sizes. In cancer genomics research, PRS has been applied to stratify individuals by constitutional risk, predict phenotypic differences in response to environmental exposures, and refine surveillance recommendations. Scores are reported per individual from germline genotyping or whole-genome sequencing.

Used by

• Three UV-tanning propensity PRS (from the PGS Catalog) were evaluated against dose-normalised NB-UVB mutation burden in 16 psoriasis patients: PGS001246 (“very tanned”, 4,130 variants), PGS001244 (“mildly/occasionally tanned”, 958 variants), and PGS001247 (“never tan, only burn”, 3,159 variants). Asian patients had the lowest Δ-mutation burden/dose and the lowest PGS001246/PGS001244 scores; Δ-mutation burden/dose was negatively associated with minimal erythema dose (MED; P=0.007, Spearman). Authors propose PRS could be incorporated into future personalised NB-UVB surveillance models alongside MED and self-reported sun-exposure behaviour. PMID:26950094

Notes

• These scores were used descriptively and correlatively, not as a primary outcome; the study was not powered for formal PRS validation.
• Correlation between low tanning PRS and low mutation-burden increment is consistent with known roles of MC1R and pigmentation genetics in UV sensitivity.
• The PGS Catalog identifiers (PGS001244, PGS001246, PGS001247) provide exact reproducibility of the scores used.

Sources

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