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Rare Genetic Variants Could Lower Risk of High Blood Pressure
April 07, 2008 at 4:00 PM
Hypertension News
While the study, led by Richard Lifton, chair of the Department of Genetics and Sterling Professor of Genetics and Internal Medicine at Yale, has suggested that rare mutations may lead to development of severe diseases like hypertension, it also indicates that they may have implications for the diagnosis and treatment of diseases like diabetes and schizophrenia.
In the current study, DNA samples were taken from 3,125 people who participated in the Framingham Heart Study, which provided a great deal of information about the causes of heart disease.
The researchers focused their study on the health impact of three genes, namely NCCT, NKCC2 and ROMK, playing a major role in the processing of salt in the kidney and each gene was responsible for causing extremely low blood pressure levels when inherited with two defective copies (one from each parent).
This led the researchers to predict that those who have only one defective copy might be less prone to hypertension.
The results indicated that 2 percent of the subjects had one defective copy of one of the three genes. Usually those carrying these genes had lower blood pressure and a 60 percent lower risk of developing hypertension by the time they were 60 than the general population.
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