September 20, 2016

The genetics of blood pressure

At a Glance

  • Large-scale studies of the genetic influences on blood pressure revealed dozens of new genetic variations associated with a risk of high blood pressure.
  • The findings will lead to a better understanding of the complex factors that affect blood pressure and may lead to new treatment approaches.
Illustration of the inside of a blood vessel. High blood pressure can damage your blood vessels and harm important organs. Wavebreakmedia Ltd/Thinkstock

Blood delivers nutrients and oxygen to all parts of your body. High blood pressure, or hypertension, is a common disease in which blood flows through blood vessels at higher than normal pressures. A high force of blood flow can damage and weaken your blood vessels. Over time, hypertension can harm different organs, including the heart, kidneys, brain, and eyes.

To learn more about how genes might affect our blood pressure, 3 international research teams that included NIH researchers analyzed hundreds of thousands of people’s genomes to look for genetic variations associated with blood pressure regulation. The research was funded by NIH’s National Heart, Lung, and Blood Institute (NHLBI), National Institute on Aging (NIA), and National Human Genome Research Institute (NHGRI), among many others. Results were published online on September 12, 2016 in Nature Genetics.

The first study analyzed Cardio-Metabochip microarray data from 74 studies that included over 342,000 people of European ancestry. Using these data, the researchers identified 66 blood-pressure associated regions of the genome (loci), 17 of which were previously unknown. Analyses suggested that many of the newly identified loci may play a role within cells lining blood vessels in controlling blood pressure. There was no enrichment of a single predominant genetic pathway in the data, reflecting the complexity of blood pressure influences. The group found comparable results in a group of more than 64,000 people of South Asian, East Asian, and African descent.

The second research group performed a genome-wide analysis of more than 327,000 people. Their meta-analysis of Human Exome BeadChip gene array (Exome Chip) data revealed 31 new blood pressure-associated loci and confirmed 39 that had been previously identified. These loci were strongly linked to genetic risk of heart disease and heart attack.

A third team led by United Kingdom-based researchers used Exome Chip data to screen nearly 350,000 people. Their meta-analysis identified 30 new blood pressure-associated regions of the genome. Taken together, these 3 studies expand our understanding of the genetic components of blood pressure by doubling the number of reported blood pressure genes. They also highlight potential new targets for treating hypertension.

“High blood pressure, or hypertension, is a major cause of heart disease and stroke worldwide, but its underlying causes are poorly understood,” says Dr. Christopher Newton-Cheh of Massachusetts General Hospital, a senior author of the first 2 papers. “Existing therapies target only a small subset of the pathways that contribute to hypertension, so identifying additional genes that influence blood pressure can point us in new directions, giving us exciting new leads for drug development.”

—by Tianna Hicklin, Ph.D.

Related Links

Reference: The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. Ehret GB, et al. Nat Genet. 2016 Sep 12. doi:10.1038/ng.3667. [Epub ahead of print]. PMID: 27618452.
Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. Liu C, et al. Nat Genet. 2016 Sep 12. doi:10.1038/ng.3660. [Epub ahead of print]. PMID: 27618448.
Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension. Surendran P, et al. Nat Genet. 2016 Sep 12. doi:10.1038/ng.3654. [Epub ahead of print]. PMID: 27618447.

Funding: NIH’s National Heart, Lung, and Blood Institute (NHLBI), National Human Genome Research Institute (NHGRI), National Cancer Institute (NCI), National Institute of General Medical Sciences (NIGMS), National Institute on Aging (NIA), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Eye Institute (NEI), National Human Genome Research Institute (NHGRI), National Institute of Neurological Disorders and Stroke (NINDS), National Center for Advancing Translational Sciences (NCATS), National Institute on Minority Health and Health Disparities (NIMHD), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and various other funding agencies worldwide. For full list, see supplementary information for Ehret GB, et al., page 87; supplementary information for Liu C, et al., page 62; and supplementary information for Surendran P, et al., page 5.