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.
https://www.nih.gov/news-events/nih-research-matters/genetics-blood-pressure
Meta-analyses of association results for blood pressure using exome-centric single-variant and gene-based tests identified 31 new loci in a discovery stage among 146,562 individuals, with follow-up and meta-analysis in 180,726 additional individuals (total n = 327,288). These blood pressure-associated loci are enriched for known variants for cardiometabolic traits. Associations were also observed for the aggregation of rare and low-frequency missense variants in three genes, NPR1, DBH, and PTPMT1. In addition, blood pressure associations at 39 previously reported loci were confirmed.
The identified variants implicate biological pathways related to cardiometabolic traits, vascular function, and development.
Several new variants are inferred to have roles in transcription or as hubs in protein-protein interaction networks.
Genetic risk scores constructed from the identified variants were strongly associated with coronary disease and myocardial infarction. This large collection of blood pressure-associated loci suggests new therapeutic strategies for hypertension, emphasizing a link with cardiometabolic risk.
http://www.ncbi.nlm.nih.gov/pubmed/27618448