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Greek village reveals genetic secrets on heart disease
June 4, 2017, 5:07 pm

A genetic variant found in an isolated Greek population has been shown to protect the heart against cardiovascular disease. The findings, by researchers at the Wellcome Trust Sanger Institute in the United Kingdom and their collaborators, could have far-reaching implications in studies on protecting against heart diseases.

In the village of Mylopotamos, northern Crete the population are unusual as they have a diet that is rich in animal fat and should cause health complications, yet they have good health and live to an old age.

In an attempt to solve the puzzle, scientists made a genetic portrait of the population by sequencing the entire genome of 250 individuals to get an in-depth view. This was the first time Mylopotamos villagers had their whole genome sequenced. The team then used the results to give a more detailed view of approximately 3,200 people for whom previous genetic information was known.

Scientists discovered a new genetic variant that was not previously known to have cardio-protective qualities. The variant, rs145556679*, was associated with lower levels of both 'bad' natural fats — triglycerides — and 'bad' cholesterol — very low density lipoprotein cholesterol (VLDL). These factors lower the risk of cardiovascular disease.

The cardio-protective variant may be almost unique to the Mylopotamos population. The genome sequencing results of a few thousand Europeans has only revealed one copy of this variant in a single individual in Tuscany, Italy. A separate variant in the same gene has also been found to be associated with lower levels of triglycerides in the Amish founder population in the United States.

Researchers said that by studying isolated populations, they were are able to identify those genetic variants that are at a higher frequency compared to cosmopolitan populations and this in turn increased their power to detect if these variants were disease causing. With isolated populations, we can get a unique view into rare genetic variants that play important roles in complex human diseases including cardiovascular disease, which is the most common cause of death worldwide.

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