New cardioprotective genetic variant identified

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The variant has enabled the population of a Greek village to live long and healthy lives despite having a diet high in animal fat.

Scientists have identified a new genetic variant that appears to protect against cardiovascular disease, even in individuals with a diet high in animal fat.

Scientists sequenced the entire genome of 250 inhabitants of Mylopotamos in northern Crete to get an in-depth view of why the villagers live long and healthy lives, despite consuming a diet high in animal fat. They identified a variant, rs145556679, was associated with decreased triglycerides and very low density lipoprotein cholesterol (VLDL).

The authors said the variant may be almost unique to the Mylopotamos population. The genome sequencing results of thousands of Europeans has only revealed one copy of the 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.

Lead author, Professor Eleftheria Zeggini from the Wellcome Trust Sanger Institute commented: “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 findings are published in Nature Communications .

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