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A condition in which the ring finger is bent and fixed, as seen in Dupuytren’s disease, colloquially known as “Viking’s disease.”Credits: Hugo Zeberg/Molecular Biology and Evolution

I got a new paper Molecular biology and evolution It shows that some of the conditions known as Dupuytren’s disease came from Neanderthals. Researchers have long known that the disease is much more common in northern Europeans than in people of African descent.

Dupuytren’s disease is a disease that affects the hands. People who suffer from this condition eventually end up with a permanently crooked hand. The condition can affect any finger, but the ring and middle fingers are most often affected. Scientists have so far identified several risk factors for the condition, including age, alcohol consumption, diabetes, and genetic predisposition.

A 1999 Danish study reported a heritability of 80% for this condition, indicating a strong genetic influence. This condition is common in people of Nordic descent. One study estimates the prevalence of Dupuytren’s disease among Norwegians to be as high as 30% over a 60-year period. However, the condition is rare, mostly for people of African descent. This distinct geographic distribution has earned Dupuytren’s disease the nickname ‘Viking’s disease’.

There are geographic differences in the range of genetic ancestry linking modern humans and extinct populations. People from sub-Saharan Africa have little ancestry from Neanderthals and Denisovans, who lived in Europe and Asia until at least 42,000 years ago. In contrast, people with roots outside of Africa inherited 2% of their genome from Neanderthals, and some populations in Asia today have up to 5% Denisovan ancestry. Given these regional differences, it is likely that archaic genetic variations contribute primarily to traits and diseases found in specific populations.

Given the prevalence of Dupuytren’s disease among Europeans, researchers investigated its genetic origins here. They used data from his 7,871 cases and his 645,880 controls from the UK Biobank, the FinGen R7 Collection, and the Michigan Genomics Initiative to identify genetic risk variants for Dupuytren’s disease. bottom.

They found 61 genome-wide significant mutations associated with Dupuytren’s disease. Further analysis showed that three of these variants, including the second and his third most relevant variant, were of Neanderthal origin. The discovery that two of the most important genetic risk factors for Dupuytren’s disease are of Neanderthal origin has led scientists to believe that Neanderthal ancestry is an important factor in explaining the prevalence of the disease in Europe today. concluded.

“This is an example of how an encounter with a Neanderthal affected people suffering from disease,” said Hugo Seberg, the study’s lead author. isn’t it”

For more information:
Richard Ågren et al, Major genetic risk factors for Dupuytren’s disease inherited from Neanderthals, Molecular biology and evolution (2023). DOI: 10.1093/molbev/msad130

Magazine information:
Molecular biology and evolution




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