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Catalog
2023 ACMG Annual Clinical Genetics Meeting Digital ...
Adjusted Polygenic Score: Translation of a New Con ...
Adjusted Polygenic Score: Translation of a New Concept for Cardiovascular Disease Prevention and Management
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The document discusses a novel concept called the Adjusted Polygenic Score (Adj-PRS) for cardiovascular disease prevention and management. The Adj-PRS is a genetic profiling tool that uses the Polygenic Risk Score (PRS) to estimate an individual's predisposition to cardiovascular disease. The PRS is calculated by weighting the number of risk alleles a person carries based on their measured effects as determined by Genome Wide Association Studies (GWAS). The aim of this study was to develop a novel PRS for various cardiovascular diseases and improve its risk estimation by incorporating age, behavioral parameters, and phenotypic characteristics, resulting in the Adj-PRS.<br /><br />The study used three algorithms to search for relevant GWAS on cardiovascular disease predisposition and then identified appropriate Single Nucleotide Polymorphisms (SNPs) associated with each disease. A genetic panel called iDNA Cardio Health was developed to assess polygenic risk for six cardiovascular diseases. The Adj-PRS was calculated by integrating the LS7 lifestyle and phenotypic characteristics scoring system and chronological age.<br /><br />A population study of randomly selected Greek individuals was conducted to assess the PRS and Adj-PRS. The results showed that the Adj-PRS provided a more accurate risk stratification for cardiovascular disease compared to the PRS alone. The study found that females had a larger reduction in the mean Adj-PRS, indicating better cardiovascular health status compared to males. Increased body mass index (BMI) and smoking were associated with higher mean Adj-PRS in individuals with overweight and obesity and smokers, respectively.<br /><br />The document concludes that the current clinical tools for cardiovascular disease risk estimation may underestimate the risk, and the implementation of the PRS and Adj-PRS in clinical care could revolutionize cardiovascular disease prevention and management. This approach could enable personalized medicine approaches in cardiovascular diseases.
Asset Subtitle
Co-Author - Nikolaos Panagiotou, PhD; Co-Author - Fragkiskos Bersimis, PhD; Co-Author - Athanasios Fotis, MSc; Co-Author - Eleni Ntoumou, MSc; Co-Author - Effie Salata, MSc; Co-Author - Manolis Kallistratos, MD, PhD; Presenting Author - Apostolos Psychogios, MD; Co-Author - Alexis Sagonas, MS;
Meta Tag
Bioinformatics
Cardiac/circulatory disorders
Cardiovascular System
Counseling
Genetic Testing
Genomic Methodologies
Methodology
Natural History
Polygenic risk scores
Risk Assessment
Co-Author
Nikolaos Panagiotou, PhD
Co-Author
Fragkiskos Bersimis, PhD
Co-Author
Athanasios Fotis, MSc
Co-Author
Eleni Ntoumou, MSc
Co-Author
Effie Salata, MSc
Co-Author
Manolis Kallistratos, MD, PhD
Co-Author
Alexis Sagonas, MS
Presenting Author
Apostolos Psychogios, MD
Keywords
Adjusted Polygenic Score
Cardiovascular Disease Prevention
Cardiovascular Disease Management
Genetic Profiling Tool
Polygenic Risk Score
Genome Wide Association Studies
Single Nucleotide Polymorphisms
iDNA Cardio Health
LS7 Lifestyle and Phenotypic Characteristics Scoring System
Risk Stratification
© 2024 American College of Medical Genetics and Genomics. All rights reserved.
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