Hugo Zeberg, assistant professor in the Department of Physiology and Pharmacology, Karolinska Institutet

image: Hugo Zeberg, assistant professor in the Department of Physiology and Pharmacology, Karolinska Institutet
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Credit: Photo: Alexander Donka

Many men in northern Europe over the age of 60 suffer from the so-called Viking disease, which means that the fingers get stuck in a bent position. Now researchers at Karolinska Institutet, together with colleagues, have used data from more than 7,000 affected individuals to look for genetic risk factors for the disease. The results, which were published in Molecular Biology and Evolutionshow that three of the strongest risk factors are inherited from Neanderthals.

Up to 30 percent of men in northern Europe over the age of 60 suffer from a condition called Dupuytren’s contracture. The condition is sometimes called Viking disease because it primarily affects individuals with Northern European ancestry. The disease is significantly more common in men than women and usually begins as a lump in the palm of the hand that grows and causes one or more fingers to become stuck in a bent position. The condition is usually not painful, but sometimes the nodules can be tender to pressure.

The study researchers, led by Hugo Zeberg of the Karolinska Institutet and Svante Pääbo of the Max Planck Institute for Evolutionary Anthropology, set out to investigate whether genetic variants inherited from Neanderthals are involved in the disease.

Neanderthals lived in Europe and western Asia until around 40,000 years ago when they were replaced by modern humans. However, before Neanderthals disappeared, they intermingled with modern humans. As a result, between one and two percent of the genomes of people with roots outside Africa come from Neanderthals.

“Because Dupuytren’s contracture is rarely seen in individuals of African ancestry, we wondered whether genetic variants in Neanderthals might in part explain why people outside Africa are affected,” says Hugo Zeberg, assistant professor at the department of Physiology and Pharmacology, Karolinska Institutet.

The researchers used data from three large clinical cohorts in the US, UK and Finland, which allowed them to compare the genomes of 7,871 patients and 645,880 healthy controls. They identified 61 genetic risk factors for Dupuytren’s contracture. The researchers found that three of these were inherited from Neanderthals and these included the second and third most important risk factors.

The study is further evidence that admixture between Neanderthals and our ancestors has important consequences for the prevalence of certain diseases, particularly among certain groups.

“This is a case where the encounter with Neanderthals affected disease sufferers, although the link between Neanderthals and Vikings should not be exaggerated,” says Hugo Zeberg.

The study was funded by The Swedish Research Council, The Swedish Brain Foundation, The Erik Philip-Sörensen Foundation, Petrus och Augusta Hedlunds Stiftelse and Emil och Wera Cornells Stiftelse.

Publication: “Major genetic risk factors for Dupuytren’s disease are inherited from Neanderthals,” Richard Ågren, Snehal Patil, Xiang Zhou, FinnGen, Kristoffer Sahlholm, Svante Pääbo, and Hugo Zeberg, Mmolecular biology and evolutiononline June 14, 2023, doi: 10.1093/molbev/msad130

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