An ancient gene mutation in the First Nations populations of Oceania may make them more susceptible to infectious diseases like influenza, as indicated by new research.
An ancient gene mutation found in the First Nations populations of Oceania might increase their vulnerability to infectious diseases such as influenza, according to recent findings from scientists at the University of Colorado Anschutz Medical Campus.
According to Paul Norman, PhD, the study’s lead author and a professor of biomedical informatics at the University of Colorado School of Medicine, “We discovered a diverse array of genes within this population, but one allele stood out significantly in terms of its genetic makeup. Our investigations suggest that this allele has its roots in archaic humans.”
The findings were published today in the journal Cell, in partnership with researchers from Australia, Papua New Guinea, Mexico, and the United Kingdom.
The allele, a gene variation resulting from mutation, is believed to trace back to the Denisovans, an ancient group of humans that separated from modern humans before going extinct. It is thought that the First Nations peoples of Australia, New Guinea, American Samoa, New Caledonia, the Solomon Islands, and other parts of Oceania interbred with Denisovans after migrating from Africa and traversing Europe and Eurasia, from whom they likely inherited this allele.
Known as KIR3DL1*114, this allele is both widespread and distinct to Oceania and is believed to derive from these ancient populations. Researchers think it may influence how the immune system responds to infections, potentially explaining the severe impacts and poor health outcomes from infectious diseases in First Nations communities throughout Oceania.
The study explained, “After departing from Africa, the contemporary First Nations populations of Oceania diverged from Eurasians. The subsequent mixing with archaic humans brought new genetic material, significantly affecting immune system genes.”
The researchers analyzed the immune system composition of this group and discovered a “unique and divergent form of KIR3DL1” that shares traits with archaic human genetic sequences. They then explored the origin, distribution, and function of the allele to ascertain its effects on immunity driven by natural killer (NK) cells across Oceania.
Norman mentioned that while this allele may have once provided some form of immune protection, it could now render First Nations individuals more prone to specific infectious diseases and other health problems.
“It likely had a protective role in the past, and we are keen to uncover what that is,” he added.
The research revealed that up to 30% of the First Nations population in Oceania, approximately five million people, carry this allele.
This discovery has significant implications for innate and adaptive immunity, autoimmune conditions, cancer, immunotherapy, and neurological diseases. It illustrates the tangible influence of archaic genetics on the health of First Nations peoples in Oceania.
Norman remarked, “This represents the first clear demonstration of a specific function linked to one of these ancient genes. Our overall goal is to study these populations to address current health disparities and provide treatment for diseases affecting these communities.”
He emphasized that this study is a culmination of collaboration with immunologists and infectious disease specialists from the University of Melbourne, Australia, and Oxford, UK, along with structural biologists from Monash University, as well as indigenous health researchers from Charles Darwin and Queensland Universities in Australia. “We are deeply thankful to all the participants for their invaluable contributions to this unique study,” he concluded.
