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Autoimmune diseases may stem from Neanderthal genes

03 February 2014

By Dr Anna Cauldwell

Appeared in BioNews 740

Genes linked with type 2 diabetes, Crohn's disease, and even smoking addiction were acquired through interbreeding with Neanderthals, a study published in Nature suggests.

Professor David Reich of Harvard Medical School, the lead author of the study, said: 'Now that we can estimate the probability that a particular genetic variant arose from Neanderthals, we can begin to understand how that inherited DNA affects us'.

The researchers compared the genomes of 1,004 people of European and Asian descent with Neanderthal DNA from a 50,000-year-old toe bone found in a Siberian cave. These genomes were also compared to those of 176 West Africans. Ancestors of people from that part of the world are thought never to have interbred with Neanderthals.

In contrast, between two percent and four percent of the modern non-African genome is considered to be a result of ancient Homo sapiens interbreeding with Neanderthals.

The researchers in this study found that Neanderthal DNA is not evenly distributed throughout the genome - some areas are particularly rich, whereas in other areas it is almost entirely absent. Neanderthal DNA was found in very low quantities in regions of the X chromosome and in testes-specific genes, for example.

However a number of genetic variants inherited from Neanderthals were linked to diseases, especially autoimmune disorders such as lupus, biliary cirrhosis (an autoimmune disease of the liver), Crohn's disease and type 2 diabetes.

The findings build upon those in another recent study in Nature in which a gene variant of Neanderthal origin was shown to increase the risk of type 2 diabetes (reported in BioNews 736).

One question the scientists are considering is whether our ancient relatives also had these diseases or whether the variants only impact health in a modern genetic setting. Currently, says Dr Sriram Sankararaman, one of the study's scientists, 'we don't have the fine knowledge of the genetics of Neanderthals to answer this'.

The answer might come with further research. In a statement, the scientists say they are now searching for Neanderthal mutations in a 'biobank containing genetic data from half a million Britons', presumably UK Biobank.

Daily Mail | 29 January 2014
The Economist | 01 February 2014
BBC News | 29 January 2014
Harvard Medical School (press release) | 29 January 2014
Nature | 29 January 2014


27 February 2017 - by Annabel Slater and Ari Haque 
Neanderthal DNA is still involved in controlling a range of traits in modern humans...
14 November 2016 - by Matthew Thomas 
The process of natural selection has removed the majority of Neanderthal DNA from the modern human genome, leaving behind a handful of beneficial genes, two recent studies have suggested...
15 June 2015 - by Paul Waldron 
The modern European and Central Asian gene pools are the result of mass migrations during the Bronze Age, according to a new analysis of ancient human remains...
08 June 2015 - by Matthew Thomas 
'Genetics is messy and history is foggy. We are a species that is mobile and horny.' That is how Adam Rutherford quite accurately sums up the quest for understanding the human story in his documentary...
18 May 2015 - by Dr Nicola Davis 
Researchers have discovered a pattern in 11 genes that could make it quick and easy to diagnose sepsis, a serious life-threatening condition...

06 January 2014 - by Dr Charlotte Warren-Gash 
A gene variant increases the risk of type 2 diabetes in Latin American populations, according to a study in Nature...
30 August 2011 - by Dr Kimberley Bryon-Dodd 
Cross-breeding with early humans was highly advantageous to the modern human immune system, according to a new study published in Science...
09 May 2011 - by Mehmet Fidanboylu 
A genetic predisposition towards autoimmune disease may be associated with lower pregnancy rates in IVF, a US study suggests. The findings offer a possible explanation for differences in IVF treatment outcomes between different ethnic groups....
10 May 2010 - by Dr Charlotte Maden 
Neanderthals are our closest evolutionary relative, a study published in the journal Science has found...

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