Ancient Alleles Shed Light on Atherosclerosis Risk

Ancient humans had clogged arteries hundreds of years earlier than smoking, cinnamon buns, caramel macchiatos, and sofa potatoes had been in type.1,2 Take for example Ötzi the Iceman, who died over 5000 years in the past at round age 45 with an arrowhead lodged in his shoulder.3 CT scans of his mummified physique confirmed that he had atherosclerotic plaques, which precede heart problems, in his arteries.4 Had he not been killed, maybe Ötzi would have ultimately died of a coronary heart assault or stroke. However what had been the possibilities? 

The genetic predisposition to atherosclerotic heart problems (ASCVD) constitutes half of the identified danger. Particular genetic variations, generally known as single nucleotide polymorphisms (SNP), carried by many individuals, improve the chance of ASCVD in trendy people. Discovering out whether or not these variations existed in historic people and the extent to which they elevated the chance for ASCVD can make clear the evolution of ASCVD and its genetic risk components.5 

Scientist wearing a black blazer and white shirt smiling to the camera with a light grey wall in the background.

Christina Wurst is a PhD candidate on the Institute for Mummy Research at Eurac Analysis.

Eurac Analysis

About 80 km (about 50 miles) from the Austrian-Italian Alps the place Ötzi’s glacierized physique was found in 1991, a group of researchers from Eurac Analysis not too long ago examined the DNA of historic people who lived throughout totally different time durations and geographic areas to find out their genetic risk profiles for ASCVD.6 Considered one of these was Ötzi the Iceman. “We created a software to research our previous and higher perceive the interactions between genetics and the setting,” stated Christina Wurst, a paleogeneticist on the Institute for Mummy Research at Eurac Analysis who led the work for this research.

Wurst and her colleagues used subsequent technology sequencing and bioinformatics to calculate the cardiovascular polygenic danger scores (PRS)—an estimate of the genetic danger for growing ASCVD based mostly on the cumulative affect of assorted SNP—for these mummies. Total, they used 87 SNP throughout 56 genes to calculate PRS, which they in comparison with scores from a contemporary database of people. Ötzi was certainly one of two mummies whose remarkably excessive ASCVD PRS correlated with CT scans that confirmed atherosclerotic plaques. 

Scientist wearing a dark grey sweater, blue checkered shirt, and glasses smiling to the camera with a light grey wall in the background.

Frank Maixner is a microbiologist and coordinator on the Institute for Mummy Research at Eurac Analysis.

Eurac Analysis

“We began with twenty-two mummies initially and realized that for some mummies it’s very tough to get information,” stated Frank Maixner, coauthor and coordinator of the Institute for Mummy Research at Eurac Analysis. Of those 22 people, Maixner’s group extracted ample DNA from 5 people, certainly one of which was Ötzi’s glacierized physique. The remaining 17 of those people had been mummified historic Egyptians, the place DNA preservation is poorer due to the new local weather. “For the long run, we have to make investments extra into methodology to extract info from these [mummies], and we could have to simply accept that some simply don’t have this info anymore. This sort of broad screening allowed us to point out that at present some [mummies] are appropriate for this and others should not,” Maixner stated.

Regardless of the small pattern dimension, Maixner’s group believes that PRS is a great tool for assessing and evaluating the genetic danger of ASCVD for historic versus trendy people, and it could function a great proxy for figuring out the prevalence of ASCVD.

Researchers dressed in white biohazard gear conducting research in a laboratory.

Paleogeneticists research human mummy DNA to know whether or not historic people, who lived in vastly totally different situations, had genetic danger components for ASCVD just like trendy people.

Eurac Analysis/Ivo Corrà

Sébastien Soubeyrand, an atherogenomics researcher on the College of Ottawa Coronary heart Institute who was not concerned on this research, described the work as fascinating from the angle of understanding ASCVD in historic people. Since these alleles have been round for greater than 5000 years, they could the truth is have some evolutionary benefit. “Widespread [gene] variants have delicate roles throughout the genome, affecting a number of pathways. It’s tough as a result of one thing dangerous for coronary illness could be good for an additional illness,” Soubeyrand stated. For instance, regulatory areas within the genome that have an effect on pathways concerned in lipid dealing with and irritation could in the end have constructive or detrimental impacts relying on the context. 

As scientists proceed to tease aside the intricacies of genetic and environmental ASCVD dangers, historic people stay an essential piece of the puzzle. “Inside the previous few years, there have been plenty of enhancements in bioinformatics methods but in addition in sequencing know-how. It is changing into simpler to suit all of the puzzle items collectively,” Wurst stated. For scientists learning Ötzi the Iceman, the journey in the direction of understanding is millennia previous, making Ötzi’s historic arteries simply the tip of the iceberg.


  1. Thompson RC, et al. Atherosclerosis across 4000 years of human history: the Horus study of four ancient populations. Lancet. 2013;381(9873):1211-1222.
  2. Kim MJ, et al. Anatomical confirmation of computed tomography-based diagnosis of the atherosclerosis discovered in 17th century Korean mummy. PLoS One. 2015;10(3):e0119474. 
  3. Nerlich AG, et al. Der Mann aus dem Eis: Lebensszenario und Pathologische Befunde aus 30 Jahren Forschung an der Gletschermumie „Ötzi“ [The Iceman : Life scenarios and pathological findings from 30 years of research on the glacier mummy “Ötzi”]. Pathologe. 2021;42(5):530-539.
  4. Thompson RC, et al. Computed tomographic evidence of atherosclerosis in the mummified remains of humans from around the world. Glob Coronary heart. 2014;9(2):187-196.
  5. Zink A, et al. Genomic correlates of atherosclerosis in ancient humans. Glob Coronary heart. 2014;9(2):203-209.
  6. Wurst C, et al. Genetic predisposition of atherosclerotic cardiovascular disease in ancient human remains. Ann Glob Well being. 2024;90(1):6. 

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