A new study led by Queen Mary University has identified more than 100 new areas of the human genome, also known as genomic loci, that seem to have an impact on a person’s blood pressure. This brings the total number of independent genetic signals for blood pressure to over 2,000, showing that blood pressure is a very complex trait influenced by thousands of different genetic variations. The research findings will lead to enhanced polygenic risk scores, which can provide better predictions of blood pressure and the risk of hypertension.The archers, led by Queen Mary University of London and supported by the National Institute for Health and Care Research (NIHR), have uncovered more than a hundred new regions of the human genome, also known as genomic loci, that seem to have an impact on a person’s blood pressure. In total, they have identified over 2,000 independent genetic signals for blood pressure, showing that blood pressure is a highly complex trait influenced by a multitude of genetic variants.
The research, published in Nature Genetics, is one of the largest genomic studies of blood pressure to date, incorporating data from over 1 million individuals.
The researchers laid the foundation for a better understanding of how blood pressure is regulated.
They combined four large datasets from genome-wide association studies (GWAS) of blood pressure and hypertension to investigate the genetics of blood pressure. Their analysis revealed over 2,000 genomic loci associated with blood pressure, including 113 new regions. The research also identified numerous previously unknown genes that impact blood pressure. These findings could lead to the discovery of new drug targets and advance precision medicine in the early detection and prevention of hypertension (high blood pressure).
Through these analyses, the scientists were able to compute polygenic risk scores. These scores take into account the combined effects of all genetic variations to predict blood pressure and the likelihood of developing hypertension. For instance, the risk scores indicate that individuals with the highest genetic risk have average systolic blood pressure levels that are approximately 17 mmHg higher than those with the lowest genetic risk, as well as a 7-fold increased risk of hypertension. As a result, these polygenic risk scores are capable of distinguishing between patients based on their risk of developing hypertension, and uncovering significant differences in blood pressure that have clinical relevance.
“We have now uncovered a much larger proportion.Helen Warren, a Senior Lecturer in Statistical Genetics at Queen Mary University of London and the senior last author of the study, stated, “We have discovered that genetic factors play a larger role in blood pressure than we previously thought. We are releasing our polygenic risk scores data to the public. There are numerous potential uses for genetic risk scores, and we are eager to see how our blood pressure scores can be utilized to address more clinically relevant questions in the future.”
She added, “This extensive study is built upon over 18 years of blood pressure GWAS research. Our findings offer new insights into biological mechanisms and a greater understanding of the genetic contribution to blood pressure.””We have developed new polygenic risk scores that can help identify and stratify people at risk for cardiovascular diseases early on,” explains Patricia Munroe, who is a Professor of Molecular Medicine at Queen Mary University of London and a senior author of the paper.
Polygenic risk scores have the potential to be a valuable tool in precision medicine, but in order to be widely applicable in routine health care, more diverse genomic data is necessary. The researchers collected data mostly from people of European ancestry due to limited availability of diverse datasets when the study began. However, they found that the polygenic risk scores were also applicable to other populations.The findings are relevant to individuals of African descent, a group that has historically been underrepresented in genetic research. The African ancestry discovery was validated by analyzing data from the National Institute of Health’s (NIH) All of Us Research Program in the United States, which is focused on creating one of the largest biomedical data repositories and expediting research to enhance human health.
About 30% of adults in the United Kingdom are affected by high blood pressure, also known as hypertension. High blood pressure often has a hereditary link, indicating a genetic factor in the development of the condition along with environmental influences such as a high-sodium diet.Paraphrased:
The factors that contribute to high blood pressure include diet, lack of physical activity, smoking, and stress. When blood pressure remains consistently elevated, it can cause damage to the heart and blood vessels, increasing the risk of heart disease, kidney disease, stroke, and other health conditions. The study analyzed genetic data from the UK Biobank, which contains information from around 450,000 participants, the International Consortium for Blood Pressure, which includes data from 300,000 individuals in 77 cohort studies, and the U.S. Department of Veterans Affairs’ Million.The Veteran Program, which includes approximately 220,000 individuals, has released new data from Vanderbilt University Medical Center’s biorepository, BioVU, which consists of around 50,000 individuals.
