Discovery of eight previously unknown genes that affect blood pressure

May 11 2009

Eight previously unknown genes that affect blood pressure were recently identified in a comprehensive international study comprising 34,433 Europeans. The findings of the study, in which Uppsala University researchers participated, are being presented in the Web edition of Nature Genetics.

High blood pressure is a major contributing cause of cardiovascular disorders. Previous studies have shown that it is extremely difficult to identify genes that affect blood pressure, partly because blood pressure is impacted by non-genetic factors, such as exercise and intake of salt in food, and partly because there are many genes that work together to affect blood pressure.

In the present study, a concerted effort was made by 93 research teams in 14 countries to find genes that affect blood-pressure levels in healthy individuals. To identify these genes, blood-pressure levels were monitored in those participating in the study, and DNA samples were gathered. The entire human genome was mapped systematically by analyzing the DNA samples with the help of hundreds of thousands of genetic markers, so-called SNP markers. Sweden was represented in the study by three research teams: Ann-Christine Syvänen's research group and the SNP technology platform at Uppsala University, a group from the Karolinska Institute, and a group from Lund University. The study included DNA samples from 2,000 Swedes.

The areas of the genome that were identified in the study contain several genes that probably play a role in regulating blood pressure. The CYP17A1 gene on chromosome 10q24, for instance, plays a key role in the biosynthesis of glucorticoid hormones, which influence the metabolism of salt. In another area on chromosome 1p36 there are genes for two peptides with natrium-expelling effects. A lesser-known gene in this area, CLCN6, codes for a chloride canal in the neurons, which was not previously associated with blood-pressure regulation, and in an area on chromosome 17q21 there is the phopholipase gene, PLCD3, which is important for signaling in smooth muscles.