Ring finger locked in a flexed position as seen in Dupuytren’s disease, colloquially known as “Viking’s disease”. Credit: Hugo Zeberg/ Molecular Biology and Evolution
Dupuytren’s disease, a hand disorder common among northern Europeans, has been found to have genetic links to Neanderthals, according to a study in Molecular Biology and Evolution. Three of the 61 genetic risk variants for the disease identified by the researchers were of Neanderthal origin, highlighting the influence of ancient ancestry on modern health problems.
New paper in Molecular Biology and Evolution, published by Oxford University Press, shows that a condition known as Dupuytren’s disease is partly Neanderthal in origin. Researchers have long known that the disease is much more common in northern Europeans than in those of African descent.
Dupuytren’s disease is a disease affecting the hand. Those who suffer from this condition end up seeing their hands constantly fold into a contracted position. Although the condition can affect any finger, the ring and middle fingers are most commonly affected. Scientists have previously identified several risk factors for the condition, including age, alcohol consumption, diabetes and genetic predisposition. A 1999 Danish study reported an 80% heritability of the condition, indicating a strong genetic influence. The condition is much more common in people of Northern European descent. One study estimated that the prevalence of Dupuytren’s disease among Norwegians over 60 was as high as 30%. However, the condition is rare for those of predominantly African descent. This apparent geographic distribution has given Dupuytren’s disease the nickname “Viking disease.”
There are geographic differences in the extent of genetic ancestry linking present-day humans to now-extinct groups. The people of sub-Saharan Africa have little ancestry from the Neanderthals, or Denisovans, who lived in Europe and Asia until at least 42,000 years ago. In contrast, people with roots outside of Africa inherited up to 2% of their genome from Neanderthals, and some populations in Asia today have up to 5% Denisovan ancestry. Given these regional differences, archaic gene variants may contribute to traits or diseases found predominantly in certain populations.
Given the prevalence of Dupuytren’s disease among Europeans, researchers here investigated its genetic origins. They used data from 7,871 cases and 645,880 controls from UK Biobank, the FinnGen R7 collection and the Michigan Genomics Initiative to identify genetic risk variants for Dupuytren’s disease. They found 61 genome-wide significant variants associated with Dupuytren’s disease. Further analysis showed that three of these variants were of Neanderthal origin, including the second and third most strongly associated. The finding that two of the most important genetic risk factors for Dupuytren’s disease are of Neanderthal origin leads scientists to conclude that Neanderthal ancestry is an important factor in explaining the spread of the disease in Europe today.
“This is a case where the encounter with Neanderthals affected who suffered from disease,” said the paper’s lead author, Hugo Seeberg, “although we should not overstate the connection between Neanderthals and Vikings.”
For more information on this research, see Untangling the genetic threads of ‘Viking disease’.
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