Yale study reveals; rare Genes have big Impact on Blood Pressure

According to a report of Yale University researchers published in the Journal Nature Genetics, that they have found the rare genetic variants that can be linked with an astonishing lower risk of developing high blood pressure in common population. The perception that this rare change in genetic material may collectively play a pivotal role in the development of general yet complicated diseases like Blood-pressure also has involvement in diagnosis and treatment of diseases like diabetes and schizophrenia.

Richard Lifton, 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 led that team of researchers.

The scientists examined DNA samples from 3,125 people who took part in the Framingham Heart Study, an epidemiology survey that led to a latent treasure 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.

A big question in the field of many chronic diseases has been whether the risk of developing a disease is more closely associated to common or rare change in genetic material. Recent studies have shown that for many diseases, common genetic variants can only explain a small fraction of an individual’s risk of developing the condition. In case of hypertension, for example, large genome-wide studies have thus far found no common variants that are linked with the risk of developing hypertension.

So, scientists like Lifton and his co-workers Weizhen Ji and Jia Nee Foo have started to search for the many rare changes in the genetic material that might have a bigger impact on the risk of inherited diseases on smaller groups of people. “Collectively, common variants have explained a little fraction of the risk of most diseases in the population, as we would expect from the effects of natural selection,” Lifton clarified.”The question rises is whether many rare variations in genes will account for a large influence on common disease.”

Eventually, scientists may find many genes in which rare mutations individually account for a low ratio of common diseases among individuals, but may collectively account for the burden of common chronic diseases, Lifton added.

Levy said “We may have to march down the field from gene to gene to note other genes where rare variants are taking part in blood pressure variations.”

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