Dupuytren’s Disease Traced to Neanderthal Origins, According to New Study in Molecular Biology and Evolution

New paper came in Molecular Biology and Evolution This suggests that the condition known as Dupuytren’s disease can be traced in part to Neanderthal origins. Researchers have long known that the disease is more common in northern Europeans than in people of African descent.

Dupuytren’s disease is a disorder of the hand. Those who experience this condition end up seeing their hands permanently bend into a flexible 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 this condition, including age, alcohol consumption, diabetes, and genetic predisposition.

A 1999 Danish study reported an 80% heritability for this condition, suggesting a strong genetic influence. This condition is more common in people of northern European descent. One study estimated the prevalence of Dupuytren’s disease among Norwegians over 60 years of age to be 30%. However, this condition is rare in people of African descent. This clear geographic distribution has given Dupuytren’s disease the nickname “Viking disease”.

There are geographic differences in the degree of genetic lineage linking modern humans to extinct groups. People from sub-Saharan Africa have minor ancestry from Neanderthals or Denisovans, who lived in Europe and Asia until at least 42,000 years ago. By 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% from Denisovans. Given these regional differences, ancient genetic variants may contribute to characteristics or diseases that are primarily present in certain populations.

Due to the prevalence of Dupuytren’s disease among Europeans, researchers here are studying its genetic origins. They used data from 7,871 cases and 645,880 controls from the UK Biobank, the FinnGen R7 cohort, 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 originated with Neanderthals, including the second and third most closely related species. The discovery that two of the most important genetic risk factors for Dupuytren’s disease are of Neanderthal origin led scientists to conclude that Neanderthal origin is an important factor in explaining the prevalence of the disease in Europe today.

“This is a case where encounters with Neanderthals affected disease, although the relationship between Neanderthals and Vikings should not be exaggerated,” said the paper’s lead author, Hugo Zeiberg.