People living in isolated Greek mountains villages live long and healthy lives thanks to a unique gene that protects them against heart disease, scientists have discovered.
Researchers studied the villagers in an area of northern Crete because they had low cases of heart disease despite eating lots of animal fats.
The study, for the first time made a genetic portrait of the population of of Zoniana and Anogia by sequencing the entire genome of 250 individuals.
They found a new genetic variant, common among villagers, which appears to protect the heart by lowering levels of ‘bad’ fats and cholesterol.
Researchers from the Wellcome Trust Sanger Institute found that the variant is 40 times more common in this small Greek population than in other European populations.
Lead author Professor Eleftheria Zeggini said: ‘Genetic studies like this can help us begin to understand why this is.’
The team used the results to give a more detailed view of approximately 3,200 people for whom previous genetic information was known.
They identified the new genetic variant rs145556679* which was not previously known to have cardioprotective qualities.
The variant was associated with lower levels of both ‘bad’ natural fats – triglycerides – and ‘bad’ cholesterol – VLDL.
Heart disease is associated with a build-up of fatty deposits inside the arteries and an increased risk of blood clots.
One of the main causes of death and disability in the UK, it can cause damage to arteries in organs such as the brain, heart, kidneys and eyes.
The villagers were found to get type 2 diabetes at the same rate as the general Greek population, but they do not appear to suffer from the usual complications of the disease, such as diabetic kidney disease.
The team also studied an isolated population of 1,700 people from mountainous villages in the Pomak region of northern Greece.
It discovered four separate genetic variants that affect diastolic blood pressure, fasting glucose levels, white blood cell count and haemoglobin levels.
The genetic variant R19X was far more common in this population than in other European populations – 2 per cent compared to just 0.5 per cent.
This variant decreases triglyceride levels – a blood fat that increases risk of heart disease – and increases levels of high density lipoproteins. also known as ‘good cholesterol’, lowering risk of heart disease.
Professor Zeggini said: ‘This study shows the importance of looking at the entire genome to better understand the genetic architecture of a population..
‘We are finding new genetic variants we haven’t seen before.
‘We have discovered a medically relevant genetic variant for traits related to cardiovascular disease, the most common cause of death worldwide.’
The findings were published in Nature Communication.
