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Updated: Jun 4, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Case-control association study between polygenic risk score and COVID-19 severity in a Russian population using
Arina Nostaeva1,2, Valentin Shimansky1,2, Svetlana Apalko1,2
1City Hospital No. 40 of Kurortny District, St. Petersburg State Budgetary Healthcare Institution, Sestroretsk, Russia.
Genetics influences COVID-19 severity. A polygenic risk score effectively identifies individuals at higher risk for severe disease and mortality, offering a valuable tool for risk stratification.
Area of Science:
- Genetics and Genomics
- Infectious Disease Epidemiology
Background:
- COVID-19 course varies significantly, with genetic factors playing a key role.
- Previous genetic studies identified single nucleotide polymorphisms (SNPs) linked to susceptibility and severity, but with modest individual effects.
- The polygenic nature of COVID-19 necessitates advanced predictive models beyond individual SNPs.
Purpose of the Study:
- To evaluate the effectiveness of a genome-wide polygenic risk score (PRS) model for predicting COVID-19 severity in a Russian population.
- To assess the association between PRS and severe COVID-19 outcomes, including mortality.
Main Methods:
- Developed a PRS model using over a million common SNPs from the COVID-19 Host Genetics Initiative.
- Performed low-coverage sequencing for approximately 1000 participants to calculate PRS values.
- Utilized multivariate logistic regression to analyze the association between PRS and COVID-19 outcomes.
Main Results:
- Individuals in the top 10% PRS had a 2.9-fold increased risk of severe COVID-19.
- The top 10% PRS group exhibited over a 4.3-fold higher risk of COVID-19 mortality.
- The PRS model demonstrated significant predictive power for severe COVID-19 and mortality.
Conclusions:
- Polygenic risk scores are a promising tool for identifying individuals genetically predisposed to severe COVID-19.
- PRS can aid in personalized risk assessment and potentially guide clinical management strategies.
- Further validation in diverse populations is warranted to broaden the application of PRS in infectious diseases.
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