Study claims Alps' 53000-yr-old mummified iceman had heart disease genes

Scientists have revealed that the 5,300-year-old Tyrolean Iceman from the Alps had a strong genetic predisposition for increased risk for coronary heart disease (CHD).

The researchers who conducted the whole-genome study of the mummy revealed several single nucleotide polymorphisms (SNPs) that have been linked with modern day cardiovascular disease and that the computed tomography (CT) scans of the Iceman already had revealed major calcification in several major blood vessels, including the carotid arteries, distal aorta, and right iliac artery, which are strong signs of generalised atherosclerotic disease.

The scientists suggested that other traditional cardiac risk factors, such as being overweight, tobacco smoking, lack of physical activity, and a high fat diet, can generally be ruled out in a person from this era.

The study found that the genetic sequencing data demonstrates that the Iceman had a very specific genetic mutation, namely that he was homozygous for the minor allele (GG) of rs10757274, located in chromosomal region 9p21.

This SNP is currently regarded as being among the strongest genetic predictors of heart attacks and has been confirmed in several studies as a major risk locus for CHD.

The researchers added that the study of ancient humans and a better understanding of the interaction between environmental and genetic influences on the development of heart diseases may lead to a more effective prevention and treatment of the most common cause of death in the modern world.

The study was published in the Global Heart.