A recent study has identified genetic markers that account for up to 12% of the variations in blood pressure between individuals. Led by researchers from the National Institutes of Health (NIH), the study has uncovered over 100 new regions of the human genome associated with blood pressure regulation. These findings, published in Nature Genetics, shed light on the genetic underpinnings of blood pressure and could lead to the identification of new drug targets for hypertension treatment.
Dr. Jacob Keaton, a staff scientist at the National Human Genome Research Institute (NHGRI) and the lead author of the study, emphasized the significance of these findings in understanding blood pressure regulation. By combining data from large-scale genome-wide association studies, the researchers identified over 2,000 genomic loci related to blood pressure, including 113 new regions. Notably, several of these newly discovered regions are associated with genes involved in iron metabolism, supporting previous evidence linking iron accumulation to cardiovascular disease.
Additionally, the study confirmed the association between variants in the ADRA1A gene and blood pressure. ADRA1A encodes a type of cellular receptor targeted by current blood pressure medications, suggesting the potential for new drug targets identified in the study.
The researchers also developed a polygenic risk score that combines the effects of multiple genomic variants to predict an individual’s blood pressure and hypertension risk. While the study primarily focused on individuals of European ancestry, the findings were applicable to individuals of African ancestry as well, indicating the potential for broader use of polygenic risk scores in precision medicine.
High blood pressure, or hypertension, affects nearly half of adults in the United States and is associated with increased risk of heart disease, stroke, and other health conditions. The collaborative effort involved researchers from various institutions worldwide and highlights the importance of large-scale genomic studies in understanding complex diseases like hypertension.