This is one of the clearest examples in ancient DNA research of a genetic predisposition being confirmed by physical evidence in the same individual.

The atherosclerosis finding was significant for medicine as well as for archaeology.

When Ötzi’s arterial disease was first described, some researchers proposed that it might be a consequence of the specific stresses of his life and environment.

The genomic evidence that he was genetically predisposed to cardiovascular disease suggested that atherosclerosis is not primarily a modern lifestyle disease but has deep biological roots — that the genetic architecture underlying cardiovascular risk was present in European populations at least as early as the Copper Age.

Ötzi’s genome also showed variants associated with a higher body mass index (BMI) — suggesting a genetic predisposition toward storing more body fat than average.