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The long-lasting effects of rheumatoid arthritis plague untold millions worldwide, indiscriminately affecting men and women of all age groups. Arthritis symptoms include joint pain and tenderness, inflammation of the joints, restricted joint movement and warm or red skin around the affected joints. Although scientists have been unable to crack what causes rheumatoid arthritis, the cause it thought, at least partially, to be genetic.
A researcher at the University of Tartu in Estonia has now linked arthritis to our ancient human relatives, the Neanderthals.
Ancient humans migrated out of Africa more than 60,000 years ago, after which they mingled and bred with Neanderthals.
Consequently, Neanderthal DNA still makes an appearance in the human – Homo sapiens – genome.
According to some estimates, Europeans and Asians have inherited between one and two percent of their genomes from Neanderthals.
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And according to Michael Dannemann, a Senior Research Fellow of Evolutionary and Population Genomics, this archaic DNA may be linked to autoimmune diseases like rheumatoid arthritis, as well as prostate cancer and type 2 diabetes.
He said: “My findings show that while the Neanderthal DNA in European and Asian populations differ they both contain variants that increase the risk of autoimmune diseases like dermatitis, Graves’ disease and rheumatoid arthritis.”
The research was published on November 28 in the journal Genome Biology and Evolution.
Mr Dannemann, who is the only author on the paper, looked at the summary statistics for 40 disease genome-wide association studies.
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The data, which was provided by the Biobank Japan Project, covered about 212,000 individuals.
According to his research, another disease that appears to be linked to Neanderthal DNA in both European and Asian populations is prostate cancer.
However, unlike rheumatoid arthritis, Mr Dannemann said the gene variant may offer some form of protection and lower the risk of developing this type of cancer.
The researcher also claims to have found an over-proportional effect of Neanderthal DNA on type 2 diabetes in Asian populations.
Mr Dannemann said: “This is highlighting the importance of studying the phenotypic legacy of Neanderthals influences modern humans today.”
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The effect of archaic DNA on our health is a field of intense research.
Scientists at Aarhus University in Denmark, for example, have examined the genomes of more than 27,000 Icelanders for irregularities and oddities.
The study found Icelanders have inherited 3.3 percent of their DNA from Denisovans – an extinct species of ancient human – alongside the Neanderthal influences.
The researchers found five traits that appeared to be influenced by archaic DNA.
Men with one such variant, for instance, are slightly less likely to develop prostate cancer.
In another case, men and women with two other variants may be shorter and have faster clotting blood.
But the researchers said they did not find any significant links between archaic DNA and autoimmune diseases like Lupus or Crohn’s.
Instead, they argued the impact of Neanderthal DNA is insignificant because most of our genomes are modern DNA.
Professor Mikkel Heide Schierup of Aarhus University said: “We have previously thought that many of the Neanderthal variants previously been found in modern human DNA were associated with an increased risk of diseases.
“However, our study shows that the human gene variants located directly beside the Neanderthal genes are better explanations for the risk.”
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