Scientists have identified a unique gene variant in people living in isolated Greek villages that protect them from heart diseases despite enjoying a high-fat diet. The variant, rs145556679*, is associated with lower levels of both ‘bad’ natural fats and ‘bad’ cholesterol, the factors that lower the risk of cardiovascular disease, said researchers from Wellcome Trust Sanger Institute in the UK. The cardioprotective variant was found in Mylopotamos, northern Crete where the population is isolated and live a long life despite having a diet rich in animal fat.
Researchers made a genetic portrait of the population by sequencing the entire genome of 250 individuals to get an in- depth view. The team then used the results to give a more detailed view of about 3,200 people for whom previous genetic information was known. Scientists discovered a new genetic variant that was not previously known to have cardioprotective qualities.
The cardioprotective variant may be almost unique to the Mylopotamos population, researchers said as the genome sequencing results of a few thousand Europeans only revealed one copy of this variant in a single individual in Tuscany, Italy. Researchers also found a separate variant in the same gene to be associated with lower levels of triglycerides in the Amish founder population in the US.
“We were able to identify those genetic variants that are at a higher frequency compared to cosmopolitan populations and this, in turn, increases our power to detect if these variants are disease-causing,” said Lorraine Southam from Wellcome Trust Sanger Institute.
“With isolated populations, we can get a unique view into rare genetic variants that play important roles in complex human diseases,” Southam said. Researchers also studied an isolated population from mountainous villages in the Pomak region of northern Greece.
They looked at the genetics of about 1700 people in the population and discovered four separate genetic variants that affect diastolic blood pressure, fasting glucose levels, white blood cell count and haemoglobin levels. The study was published in the journal Nature Communications.