Genome Mapping Reveals Genes that Contribute to Hypertension

Cardiovascular disease researchers used advanced gene mapping techniques to search for genes directly linked to blood pressure regulation.

High blood pressure (hypertension) is a syndrome that contributes to the risk of stroke, heart attack, and kidney failure, among other conditions. Approximately 30% or more of adults suffer from high blood pressure, and experts suggest that it contributes to millions of deaths worldwide each year. While factors in the environment such as diet, physical activity, and stress affect blood pressure, there is also an important genetic influence that may contribute to the likelihood of an individual developing hypertension.

To study the genetic basis for high blood pressure investigators at Johns Hopkins University (Baltimore, MD, USA) mapped the genomes of nearly 30,000 people of European descent who were participants in the [U.S.] National Institutes of Health's ARIC (Atherosclerosis Risk in Communities) project. The subjects had average systolic blood pressures ranging from 118 mmHg to 143 mmHg and average diastolic blood pressures ranging from 72 mmHg to 83 mmHg.

Results published in the May 10, 2009, online edition of the journal Nature Genetics revealed that high blood pressure was linked to a mutation in the ATP2B1 gene, which codes for a calcium pump protein. A mutation in the SH2B3 gene, which codes for a protein involved in the immune response, was also found in individuals with increased blood pressure. In some of these individuals there were also mutations in genes involved in cell growth as well as genes necessary for correct heart development.

"Strikingly, none of the genes we identified as having common variation are part of the system we know about that regulates blood pressure – the genes identified are not the ones targeted by current prescription drugs to control hypertension,” said contributing author Dr. Aravinda Chakravarti, professor of genetic medicine at Johns Hopkins University. "If we can increase the number of genes implicated in blood pressure maintenance from the current 12 to the expected 50 in the next year, our understanding of the biology will change completely.”

"Hypertension is difficult to study; it is a trait, not a disease per se unless left untreated, and many things contribute to it,” said Dr. Chakravarti. "These findings identify more pathways important for blood pressure maintenance and may lead to improvements in hypertension therapy and the formation of early detection systems.”

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