STK39 gene produces protein involved in regulating how kidneys process salt, according to PNAS.

Investigators at the University of Maryland School of Medicine report finding a gene variant that influences people’s risk of developing high blood pressure. They found that the STK39 gene, located on chromosome 2, produces a protein that helps to regulate how the kidneys process salt.

The University of Maryland researchers analyzed the DNA of 542 members of the Old Order Amish community in Lancaster County, PA. They scanned approximately 100,000 genetic markers across the entire genome for SNPs associated with systolic and diastolic blood pressure. The researchers found strong association signals with common variants of the serine/threonine kinase gene, or STK39. They say that they then confirmed their findings in another group of Amish people and in four other groups of Caucasians in the U.S. and Europe.

People with one particular variant showed slight increases in blood pressure compared to those with a more common form of the gene and were more likely to develop hypertension, researchers found. The researchers estimate that about 20% of Caucasians in the general population have this variant of the STK39 gene.

“Hypertension is a very complex condition, with numerous other genetic, environmental, and lifestyle factors involved,” points out senior author, Yen-Pei Christy Chang, Ph.D., an assistant professor of medicine and of epidemiology and preventive medicine. “The STK39 gene is only one important piece of the puzzle.

“We want to determine how people with different variations of this gene respond to diuretics and other medications or to lifestyle changes such as reducing the amount of salt in their diet. This information might help us discover the most effective way to control an individual patient’s blood pressure.”

The research appears online December 29 in the Proceedings of the National Academy of Sciences and will be published in print next month.


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