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Blood Pressure Genomics

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Pathophysiology and Pharmacotherapy of Cardiovascular Disease

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Abstract

Blood pressure genetics has been instrumental in understanding the pathways that regulate blood pressure and induce hypertension. Two types of approaches have been used with great success: First, studies of hypertensive families in which monogenic blood pressure elevation can be explained by mutations in one of a dozen genes identified so far. Unfortunately, the relevance of these rare familial variants is limited when predicting primary hypertension in the general population. Second, association meta-analyses based on genome-wide genotyping using large sample sizes that have so far yielded about around 60 common genetic variants predicting blood pressure with a small, but reproducible, impact on blood pressure in the general population. This chapter summarizes the current findings based on genome-wide association studies and outlines the conclusions that can be drawn when considering the variants identified in aggregate and gives an outlook of the challenges ahead.

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Abbreviations

BP:

Blood pressure

DBP:

Diastolic blood pressure

GWAS:

Genome-wide association studies

ICBP:

International Consortium for Blood Pressure GWAS

MAF:

Minor allele frequency

SBP:

Systolic blood pressure

SNP:

Single nucleotide polymorphism

TOD:

Target organ damage

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Author information

Authors and Affiliations

  1. Department of Cardiology, Geneva University Hospitals, Rue Gabrielle-Perret-Gentil 4, Geneva, 1211, Switzerland

    Georg B. Ehret MD

  2. Center for Complex Disease Genomics, McKusick-Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA

    Georg B. Ehret MD

Authors
  1. Georg B. Ehret MD
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Correspondence to Georg B. Ehret MD .

Editor information

Editors and Affiliations

  1. Center for Drug Evaluation and Research Division of Cardiovascular and Renal Products, US Food and Drug Administration, Silver Spring, Maryland, USA

    Gowraganahalli Jagadeesh

  2. Pharmacology Unit, AIMST University, Bedong, Malaysia

    Pitchai Balakumar

  3. Center for Drug Evaluation and Research Division of Cardiovascular and Renal Products, US Food and Drug Administration, Silver Spring, Maryland, USA

    Khin Maung-U

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© 2015 Springer International Publishing Switzerland

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Ehret, G.B. (2015). Blood Pressure Genomics. In: Jagadeesh, G., Balakumar, P., Maung-U, K. (eds) Pathophysiology and Pharmacotherapy of Cardiovascular Disease. Adis, Cham. https://doi.org/10.1007/978-3-319-15961-4_32

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  • DOI: https://doi.org/10.1007/978-3-319-15961-4_32

  • Publisher Name: Adis, Cham

  • Print ISBN: 978-3-319-15960-7

  • Online ISBN: 978-3-319-15961-4

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