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Polygenic risk score comparator (PRScomp): Test population vs. worldwide populations
Marina Laplana1, Ricard Lopez-Ortega2, Joan Fibla1
1Departament de Ciències Mèdiques Bàsiques, Universitat de Lleida, IRBLleida, Av. Alcalde Rovira Roure, 80, 25198 Lleida, Spain.
International Journal of Medical Informatics
|January 7, 2024
Summary
Polygenic risk scores (PRS) predict genetic disease risk. PRScomp is a web tool to assess and compare PRS across populations, aiding public health decisions.
Area of Science:
- Genomics and Bioinformatics
- Population Genetics
- Public Health
Background:
- Polygenic risk scores (PRS) are essential for predicting genetic predisposition to complex diseases.
- Evaluating and comparing PRS across diverse populations is crucial for understanding disease etiology and health disparities.
Purpose of the Study:
- To introduce PRScomp, a user-friendly web service for calculating and comparing polygenic risk scores.
- To enable researchers and public health officials to assess population-specific genetic risks for various diseases and traits.
Main Methods:
- Developed a comprehensive database of disease/trait summary statistics from the GWAS Catalog.
- Integrated user-submitted genotype data with reference datasets (1000 Genomes, HGDP) to identify common SNPs.
- Implemented a method for calculating summatory PRS based on curated risk markers for selected diseases/traits.
Main Results:
- PRScomp successfully calculates PRS for user-specified populations against a curated disease/trait database.
- The service generates publication-ready plots and downloadable text files detailing the distribution of z-scored PRS values.
- Enables comparison of PRS between user populations and global reference populations.
Conclusions:
- PRScomp serves as a valuable tool for public health decision-making.
- Facilitates the identification of population-specific genetic risk factors for diseases.
- Informs the development of targeted public health interventions for at-risk populations.
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