The genetic results add both information and intrigue. From his genes, we now know that the Iceman had brown hair and brown eyes and that he was probably lactose intolerant and thus could not digest milk—somewhat ironic, given theories that he was a shepherd. Not surprisingly, he is more related to people living in southern Europe today than to those in North Africa or the Middle East, with close connections to geographically isolated modern populations in Sardinia, Sicily, and the Iberian Peninsula. The DNA analysis also revealed several genetic variants that placed the Iceman at high risk for hardening of the arteries. (“If he hadn’t been shot,” Zink remarked, “he probably would have died of a heart attack or stroke in ten years.”) Perhaps most surprising, researchers found the genetic footprint of bacteria known as Borrelia burgdorferi in his DNA—making the Iceman the earliest known human infected by the bug that causes Lyme disease.
I’d guess that we’re talking about the HGDP samples from Sardina and the Basques, though those Basques were from the French side of the border. As you might know there are current models which posit that groups like the Basques and Sardinians are the descendants of Paleolithic Europeans who took up farming by and large through cultural adoption, and others which suggest that they’re mostly descendants of newcomers from the eastern Mediterranean. It doesn’t seem like Ötzi’s genome is going to resolve that, though we can at least peg a lower bound for when the last major demographic changes occurred in Sardinia. But, the fact that Ötzi is being compared to “isolated” populations in southwest Europe does tell us that there has been significant demographic turnover across this region over the past ~5,000 years, as Ötzi himself was from northern Italy. There is a northern Italian sample from Bergamo that Ötzi could have been compared to, and the fact that he wasn’t suggests that the modern people of the region are not easily explained as unaltered descendants of the relatives of Ötzi.