A team of researchers from around the world, who are part of the International Consortium of Blood Pressure, have discovered more than 100 new regions in the human genome that seem to influence a person’s blood pressure. These findings enabled the researchers to improve polygenic risk scores to be more predictive of blood pressure and hypertension risk.
Approximately 1.28 billion adults worldwide have high blood pressure, also known as hypertension. In addition to environmental factors, like increased salt intake, smoking, stress, and lack of exercise, hypertension also has underlying genetic causes and often runs in families.
Hypertension is also a major cause of premature death worldwide. Understanding the genetics of blood pressure is therefore essential to identifying novel drug targets, developing new medicines, and advancing our knowledge of blood pressure regulation in the human body.
In the study published in the journal Nature Genetics, the researchers looked at four large datasets from genome-wide association studies of blood pressure and hypertension, comprising data from more than one million people. They discovered over 2,000 regions in the human genome, also known as genomic loci, that are linked to blood pressure.
The researchers’ findings also include 113 previously unknown genomic loci, among which several are involved in iron metabolism. Moreover, the researchers were able to confirm the known link between blood pressure and variants in the gene encoding the adrenergic receptor, which is already a target for hypertension medication.
“Our study found additional genomic locations that together explain a much larger part of the genetic differences in people’s blood pressure. Knowing a person’s risk for developing hypertension could lead to tailored treatments, which are more likely to be effective,” said Jacob Keaton, first author of the study and staff scientist in the Precision Health Informatics Section within the National Human Genome Research Institute’s Intramural Research Program, in a press release.
Based on their findings, the researchers calculated improved polygenic risk scores, which can predict blood pressure and the risk of developing hypertension. While polygenic risk scores have great potential in precision medicine, the researchers pointed out that more diverse genomic data is needed for routine healthcare.
This is because the data collected in the study was mostly from people of European descent. To understand if the polygenic risk scores were also applicable to people of African descent, the researchers analyzed data from the U.S. National Institutes of Health’s All of Us Research Program. They found that the polygenic risk scores could also be applied to people of African ancestry.
“We have now revealed a much larger proportion of the genetic contribution of blood pressure than was previously known,” said Helen Warren, senior lecturer in Statistical Genetics at Queen Mary University of London and senior last author of the study, in a press release.
“We are making our polygenic risk scores data publicly available. There are many different potential applications of genetic risk scores, so it will be exciting to see how our blood pressure scores can be used to address more clinically relevant questions in the future,” Warren concluded.
