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Updated: Jun 29, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Genetic heterogeneity in cardiovascular disease across ancestries: Insights for mechanisms and therapeutic
Opeyemi Soremekun1,2,3, Marie-Joe Dib2,4, Skanda Rajasundaram5,6
1The African Computational Genomics (TACG) Research Group, Medical Research Council/Uganda Virus Research Institute and London School of Hygiene and Tropical Medicine, Uganda Research Unit, Entebbe, Uganda.
Cardiovascular diseases (CVDs) exhibit genetic heterogeneity influencing molecular mechanisms and progression. Understanding this diversity across ancestries is key for developing personalized medicine and effective CVD therapeutics.
Area of Science:
- Genetics and Precision Medicine
- Cardiovascular Research
Background:
- Cardiovascular diseases (CVDs) stem from complex interactions between genetics, lifestyle, and environment.
- Genetic heterogeneity significantly impacts CVD molecular mechanisms, clinical presentation, and disease progression.
- Current therapeutic development often overlooks genetic diversity within populations.
Purpose of the Study:
- To review the molecular and clinical heterogeneity of CVDs across diverse population ancestry groups.
- To explore how genetic heterogeneity informs therapeutic interventions and personalized medicine for CVDs.
- To highlight the utility of polygenic risk scores and Mendelian randomization in understanding CVD mechanisms.
Main Methods:
- Literature review focusing on genetic heterogeneity in cardiovascular diseases.
- Analysis of studies examining CVD mechanisms across diverse ancestral populations.
- Discussion of advanced genetic tools like polygenic risk scores and Mendelian randomization.
Main Results:
- CVD mechanisms and progression vary significantly due to genetic differences across ancestral groups.
- Genetic heterogeneity provides opportunities for tailored therapeutic strategies and personalized medicine.
- Polygenic risk scores and Mendelian randomization offer robust insights into CVD etiology and treatment.
Conclusions:
- Leveraging genetic variability across diverse populations is crucial for advancing precision medicine in cardiovascular health.
- A deeper understanding of population-specific genetic factors will improve CVD onset prediction, progression monitoring, and treatment response.
- Personalized therapeutic interventions informed by genetic diversity promise to enhance CVD management outcomes.
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