Neanderthal illustration and sketch of a ring finger locked in a flexed position as seen in Dupuytren’s disease, colloquially known as “Viking disease”. New research has found that the genetic origins of ‘Viking disease’, a condition that affects older northern European men, can be traced back to Neanderthals. Credit: Hugo Seeberg
Many men in northern Europe over the age of 60 suffer from the so-called Viking disease, which means that the fingers lock in a curled position. Now researchers from the Karolinska Institutet, together with colleagues, have used data from over 7,000 affected individuals to look for genetic risk factors for the disease. The findings, which are published in Molecular Biology and Evolutionshow that three of the strongest risk factors were 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 mainly affects people of Northern European descent. The condition 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 lock into a curled position. The condition is usually not painful, but the nodules can sometimes be tender to pressure.
Hugo Seeberg, Assistant Professor in the Department of Physiology and Pharmacology, Karolinska Institute. Credit: Alexander Donka
Researchers in the study, 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 were involved in the disease.
Neanderthals lived in Europe and western Asia until about 40,000 years ago, when they were replaced by modern humans. However, before Neanderthals became extinct, they mixed with modern humans. As a result, between one and two percent of the genomes of people with roots outside of Africa come from Neanderthals.
“Since Dupuytren’s contracture is rarely seen in individuals of African descent, we wondered whether gene variants from Neanderthals might partially explain why people outside of Africa are affected,” says Hugo Seeberg, assistant professor in the Department of Physiology and Pharmacology, Karolinska Institutet.
The researchers used data from three large clinical cohorts in the US, UK and Finland, allowing them to compare the genomes of 7,871 sufferers and 645,880 healthy controls. They identified 61 genetic risk factors for Dupuytren’s contracture. The researchers found that three of these were inherited by Neanderthals and included the second and third most important risk factors.
The study is further evidence that mixing between Neanderthals and our ancestors had important implications for the spread of some diseases, particularly among certain groups.
“This is a case where meeting Neanderthals influenced who suffered from disease, although we should not exaggerate the connection between Neanderthals and Vikings,” says Hugo Seeberg.
Reference: “Major genetic risk factors for Dupuytren’s disease inherited from Neanderthals” by Richard Ågren, Snehal Patil, Xiang Zhou, FinnGen, Kristoffer Sahlholm, Svante Pääbo, and Hugo Zeberg, 14 Jun 2023. Molecular Biology and Evolution.
DOI: 10.1093/molbev/msad130
The study was funded by the Swedish Research Council, the Swedish Brain Foundation, the Erik Philipp-Sørensen Foundation, the Petrus and Augusta Hedlund Foundation, and the Emil and Vera Cornell Foundation.