A genetic variant that protects the heart from cardiovascular diseases was discovered by scientists in Greek villagers. The cardioprotective variant, rs145556679, was found in the people living in Mylopotamos, northern Crete. These people are known to live long and healthy lives despite having a diet rich in animal fat. Lead author Eleftheria Zeggini, professor at the Wellcome Trust Sanger Institute in England said,”We have discovered a medically relevant genetic variant for traits related to cardiovascular disease, the most common cause of death worldwide.” Lorraine Southam, from the Wellcome Trust Sanger Institute added,”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.” For the study, the scientists 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 approximately 3,200 people for whom previous genetic information was known. The variant was associated with lower levels of both ‘bad’ natural fats – triglycerides – and ‘bad’ cholesterol – very low density lipoprotein cholesterol (VLDL) — factors which lowers the risk of cardiovascular disease. In addition, analysing the genetics of 1700 people in in the Pomak region of northern Greece, the team discovered four separate genetic variants that affect diastolic blood pressure, fasting glucose levels, white blood cell count and haemoglobin levels. Southam added,”With isolated populations, we can get a unique view into rare genetic variants that play important roles in complex human diseases.”

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