Genes for blood pressure: An opportunity to understand hypertension

Georg B. Ehret, Mark J. Caulfield

Research output: Contribution to journalReview articlepeer-review

99 Scopus citations


Hypertension (HTN) is quantitatively the major cardiovascular risk factor and responsible for ∼50% of cardiovascular morbidity and mortality. Blood pressure (BP) is also a classical complex genetic trait with heritability estimates of 30-50%. Although much is known about BP regulation, the intrinsic origin of essential HTN remains obscure although many environmental factors are known. Analyses of rare monogenic syndromes of HTN have focused attention on pathways that involve renal sodium handling, and steroid hormone metabolism including the mineralocorticoid receptor activity. The genetic basis of common essential HTN on the other hand is only just becoming accessible through high-throughput approaches. Unbiased genome-wide analyses of BP genomics have identified 43 genetic variants associated with systolic, diastolic BP, and HTN. It is highly likely based on current findings that there are hundreds of such loci with small effects on BP, opening a perspective on the genetic architecture of BP that was unknown before. It is our hope that the knowledge of these and further loci will lead to improved understanding of BP pathophysiology and to the identification of new targets for drug therapy.

Original languageEnglish (US)
Pages (from-to)951-961
Number of pages11
JournalEuropean heart journal
Issue number13
StatePublished - Apr 1 2013
Externally publishedYes


  • Blood pressure genetics
  • Complex genetic disease
  • Hypertension
  • Monogenic disease

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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