In searching for genetic risk factors for Viking disease, researchers have discovered three major genetic variants that appear to have originated with Neanderthals.
You can read about it in the magazine Molecular Biology and Evolution. The research article deals with Dupuytren’s disease, a condition in which nodules form in the palms of the hand, and later, hard threads of connective tissue form. This tuft flexes one or sometimes several fingers, and eventually patients can no longer move those fingers at all. The disease affects men more than women and mainly affects people of Northern European descent. This is why the condition is also referred to as “Viking disease”.
Research of more than 7,000 people with Viking disease has now revealed 61 different genetic risk factors for the disease. But perhaps most surprisingly, three of them — including the second and third most important risk factor — come from Neanderthals.
Neanderthals are humans who lived in Europe and western Asia until they were replaced by modern humans about 40,000 years ago. Before Neanderthals left the world stage, they first mixed with our ancestors who came from Africa. The result can still be found in the genomes of people of non-African descent; Between 1 and 2 percent of their genomes come from Neanderthals.
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The suspicion that Neanderthal DNA could also be a risk factor for Viking disease arose when researchers realized the disease was rare among people of African descent. “We wondered whether genetic variants from Neanderthals could partially explain why people outside Africa were affected by the disease,” said researcher Hugo Zeberg.
To this end, the researchers examined the genomes of nearly 8,000 people with Viking disease and a control group consisting of more than 645,000 people without Dupuytren’s disease. It led to the discovery of 61 genetic risk factors for Viking disease, three of which originated in Neanderthals. And two of them are also very important genetic risk factors.
That Neanderthals can still affect our health isn’t news in and of itself; Zberg and colleagues previously showed, for example, that certain genetic variants derived from Neanderthals increase the risk of contracting a dangerous form of COVID-19, but this human also gave us genetic variants that are protective against COVID-19. And now it appears that genetic variants that originated from Neanderthals also affect the chance of people getting Viking disease. “It tells us something about the consequences of mixing with Neanderthals,” Zberg says. “It reminds us that genetic variants are not evenly distributed among humans.”
In addition, the discovery may also lead to new treatments for Viking disease. “For the most important Neanderthal-derived genetic risk factor, we were also able to identify the gene involved: the EPDR1 gene. We don’t yet fully understand how this gene is involved, but the gene certainly plays a role. More research is needed, but it could It only points to a new target in the fight against Viking disease that we can focus on in drug development.”
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