Genetic Variation Increases Hypertension Risk

Researchers have identified three abnormalities in a single gene that are linked to essential hypertension, the most common class of high blood pressure.

This finding, reported in the March 19, 2002, issue of the Proceedings of the National Academy of Sciences, is the result of an 18-year collaboration between researchers at the University of Virginia (Charlottesville, USA) and Georgetown University (Washington DC, USA).

Essential hypertension affects 25% of adults and constitutes a major risk factor for stroke, heart attack, heart failure, and kidney failure. About 50% percent of essential hypertension is thought to be hereditary, but determining the genetic cause has been difficult, as the level of blood pressure is the result of the interplay between heredity and environment.

Genetic variations, or polymorphisms, either by themselves or through interaction with variations of other genes, are associated with hypertension. The presence of polymorphisms can be determined by a simple genetic test developed by the researchers. This test assesses an individual's risk of developing high blood pressure based on the detection of inherited gene variations that encode for a protein called G protein coupled receptor kinase type 4 (GRK4). GRK4 variations are associated with an inability to normally eliminate sodium from the body. Sodium in the diet has long been regarded as contributing to high blood pressure.

"Patients with even a single GRK4 variation have a significant lifetime risk for developing hypertension,” said Dr. Pedro A. Jose, the senior author of the paper. "We have now identified the genetic abnormalities that cause this error and so we have a better idea of the impact of these gene variations in the development of hypertension in three distinct racial groups.”

This discovery has led to a high-quality test based on a fluorescent molecular beacon assay that should be suitable for screening a large number of patients and will help doctors diagnose genetic forms of hypertension, according to Robin A. Felder, Ph.D., the lead author on the paper. "The genetic information disclosed by the test will allow physicians to provide guidance to patients with a family history of hypertension.”




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