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Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

, Georg B Ehret, Patricia B Munroe

    Nature
    |September 13, 2011
    PubMed

    Insights

    This genome-wide association study identified 16 new genetic regions influencing blood pressure. A genetic risk score linked these variants to hypertension and cardiovascular diseases.

    Area of Science:

    • Genetics
    • Cardiovascular Physiology
    • Public Health

    Background:

    • Hypertension affects over one billion people globally.
    • Elevated blood pressure increases cardiovascular event risk.
    • Blood pressure is a heritable trait influenced by genetics and environment.

    Purpose of the Study:

    • To identify novel genetic loci associated with blood pressure.
    • To investigate the genetic risk score's association with hypertension and related conditions.
    • To explore blood pressure genetics across diverse ancestries.

    Main Methods:

    • Multi-stage genome-wide association study (GWAS) in 200,000 European individuals.
    • Analysis of systolic and diastolic blood pressure.
    • Development and validation of a genetic risk score using 29 variants.

    Main Results:

    • Identified 16 novel genetic loci influencing blood pressure.
    • Six loci contained known blood pressure regulatory genes; ten provided new insights.
    • Genetic risk score associated with hypertension, left ventricular wall thickness, stroke, and coronary artery disease.
    • Observed cross-ancestry associations with blood pressure.

    Conclusions:

    • New insights into blood pressure genetics and physiology.
    • Potential for novel therapeutic targets for cardiovascular disease prevention.
    • Genetic risk score is a significant predictor of hypertension and cardiovascular outcomes.

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