Mylopotamos is located in northern Crete, the largest and most populous of the Greek islands (and the fifth-largest island in the Mediterranean Sea). Mylopotamos is a municipality in Rethymno regional unit. The area is divided by rocks into two sections. The village is relatively isolated from the rest of the island. Populations that have fewer interactions are often of interest to scientists, especially where there are atypical characteristics.
The Mylopotamos people are known to relatively live long and healthy lives. This is despite generally having a diet that would infer the opposite: a die that is rich in animal fat. The investigation, by the Wellcome Trust Sanger Institute, has discovered a genetic variant that appears to protect the heart against cardiovascular disease (a cardioprotective effect).
This was found after the researchers undertook blood testing, using 250 volunteers, and then made a genetic portrait of the population. This occurred by sequencing the entire genome. The scientists next applied the results to provide an in-depth understanding of approximately 3,200 people for whom previous genetic information was known. Analysis was aided using new software called METACARPA.
This comparative analysis found a new genetic variant called rs145556679*. This variant was shown to be associated with lower levels of both ‘bad’ natural fats (the triglycerides) together with ‘bad’ cholesterol (very low density lipoprotein cholesterol VLDL). These factors lower the risk of cardiovascular disease.
What was of great interest was the findings that the cardioprotective variant was unique to the Mylopotamos population (based on the library analysis and cross-comparisons). Commenting on this, principal scientist Dr. Lorraine Southam,stated: “By studying isolated populations, we are 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.”
She added: “With isolated populations, we can get a unique view into rare genetic variants that play important roles in complex human diseases.”
Further studies have taken place of a different isolated population: the Pomak region of northern Greece. This showed four different genetic variants affecting diastolic blood pressure, fasting glucose levels, white blood cell count and hemoglobin levels. These studies open up a new type of research and a new insight into health and disease.
The findings are reported in the journal Nature Communications. The research is titled “Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.”
