A study led by Queen Mary University of London and supported by the National Institute for Health and Care Research (NIHR) has identified over a hundred new regions of the human genome that influence blood pressure. This groundbreaking research, published in Nature Genetics, involved data from over 1 million individuals and discovered over 2,000 genetic signals for blood pressure, demonstrating the complexity of this trait. By understanding the genetics of blood pressure, researchers can potentially identify new drug targets and advance precision medicine in the early detection and prevention of hypertension.
The study combined four large datasets from genome-wide association studies (GWAS) of blood pressure and hypertension to identify new genomic loci linked to blood pressure, including 113 previously unidentified regions. The analyses also highlighted several previously unreported genes that affect blood pressure, providing insights into potential new treatment approaches. Polygenic risk scores were calculated from this data, which predict blood pressure and hypertension risk based on a person’s genetic variants. Individuals with the highest genetic risk were found to have significantly higher blood pressure levels and a greater risk of hypertension.
The researchers have made their polygenic risk scores data publicly available, allowing for widespread applications in clinical practice. This study builds upon over 18 years of blood pressure GWAS research, providing new resources for understanding biological mechanisms and developing more accurate risk scores for cardiovascular diseases. While the data primarily consisted of individuals of European ancestry, the researchers found that the polygenic risk scores were also applicable to individuals of African ancestry, highlighting the potential for broader use in diverse populations.
High blood pressure, or hypertension, affects an estimated 30% of adults in the UK and often runs in families, indicating a strong genetic component in addition to lifestyle factors. When left uncontrolled, high blood pressure can lead to serious health complications such as heart disease, stroke, and kidney disease. The data for this study was sourced from various large-scale biobanks and research programs, including the UK Biobank, the International Consortium for Blood Pressure, the U.S. Department of Veterans Affairs’ Million Veteran Program, and Vanderbilt University Medical Center’s BioVU repository.
The findings of this study shed light on the genetic contributors to blood pressure and provide a deeper understanding of the mechanisms underlying this complex trait. By developing more accurate polygenic risk scores, researchers hope to improve risk prediction for hypertension and enable early identification of individuals at risk for cardiovascular diseases. The availability of this data for diverse populations, including those of African ancestry, highlights the potential for precision medicine approaches to address the global burden of high blood pressure and its associated health risks.
