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The genetics of hypertension

Gabriel Stölting1, Kieu Nhi Tran Vo1, Janek Haus1

  • 1Center of Genomic Medicine, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.

Nature Reviews. Nephrology
|November 11, 2025
PubMed

Insights

Hypertension, a common condition causing millions of deaths, has genetic roots. Research identifies rare genetic mutations and common variants influencing blood pressure, offering insights for new drug targets.

Area of Science:

  • Genetics
  • Cardiology
  • Endocrinology

Background:

  • Hypertension affects one-third of adults globally, causing 8.5 million deaths annually.
  • Family studies indicate significant heritability of blood pressure, pointing to genetic contributions.
  • Both rare monogenic forms and common polygenic forms of hypertension exist.

Purpose of the Study:

  • To explore the genetic underpinnings of hypertension.
  • To identify genetic variants contributing to blood pressure regulation.
  • To evaluate potential therapeutic targets for hypertension.

Main Methods:

  • Linkage studies and next-generation sequencing identified variants in rare monogenic hypertension syndromes.
  • Genome-wide association studies (GWAS) identified numerous small-effect variants in polygenic hypertension.
  • Analysis of somatic mutations in hormone-producing tumors associated with hypertension.

Main Results:

  • Several large-effect variants causing rare monogenic hypertension syndromes were identified.
  • Numerous small-effect variants contributing to hypertension as a complex trait were discovered through GWAS.
  • Epigenetic mechanisms were found to influence gene expression and blood pressure.

Conclusions:

  • Genetic factors play a substantial role in hypertension development.
  • Understanding genetic contributions, including rare and common variants, is crucial for managing hypertension.
  • Proteins implicated in Mendelian hypertension syndromes represent potential targets for novel antihypertensive drugs.

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