Yale study shows how rare genes have big impact on blood pressure

New Haven, Conn. -Yale University researchers report today in the journal Nature Genetics that they have discovered that rare genetic variants can be associated with a dramatically lower risk of developing high blood pressure in the general population.

The insight that rare mutations may collectively play a large part in the development of common yet complex diseases such as hypertension also has implications for the diagnosis and treatment of diseases such as diabetes and schizophrenia.

The team of researchers was led by Richard Lifton http://www.med.yale.edu/bcmm/RPL/index.html , chair of the Department of Genetics and Sterling Professor of Genetics and Internal Medicine at Yale, and Daniel Levy, director National Heart, Lung and Blood Institute's Framingham Heart Study.

The scientists analyzed DNA samples from 3,125 people who participated in the Framingham Heart Study, a long-running epidemiology survey that has led to a treasure trove of information about the causes of heart disease.

They decided to study the health impact of three genes regulating the processing of salt in the kidney and each known to cause dangerously low blood pressure levels when inherited with two defective copies (one from each parent). The researchers speculated that people who carry only one defective copy might be less prone to hypertension.

Lifton's group found that 2 percent of the subjects carried one defective copy of one of the three genes. These individuals in general had lower blood pressure and a 60 percent lower risk of developing hypertension by the time they were 60 than the general population.