Rare genetic variants have drastic impact on blood pressure: Study

London, Apr 7 : A novel study by researchers at Yale University has found that rare mutations in three genes are linked to a dramatically lower risk of developing high blood pressure in the general population.

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.

Researchers have now started searching for other rare mutations that are associated with the risk of inherited diseases on smaller groups of people.

"Collectively, common variants have explained a small fraction of the risk of most diseases in the population, as we would expect from the effects of natural selection. The question this leaves open is whether many rare variations in genes will collectively account for a large influence on common disease,'' Nature quoted Lifton, as explaining.

He stressed that the new study emphasized the importance of sequencing the genome of many individuals in order to discover disease-causing mutations. In fact, in earlier studies his team identified that one of the genes, ROMK, was a potential target for new high blood pressure therapy.

According to Lifton, the practical upshot of the new work could be potential new drugs to mimic the effects of the mutation by selectively inhibiting a single gene or several genes.

The study is published in the journal Nature Genetics.

ANI