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Reviews in Endocrine and Metabolic Disorders

, Volume 20, Issue 3, pp 321–332 | Cite as

Genetics, adaptation to environmental changes and archaic admixture in the pathogenesis of diabetes mellitus in Indigenous Australians

  • Malgorzata Monika BrzozowskaEmail author
  • Essi Havula
  • Richard Benjamin Allen
  • Murray P. Cox
Article

Abstract

Indigenous Australians are particularly affected by type 2 diabetes mellitus (T2D) due to both their genetic susceptibility and a range of environmental and lifestyle risk factors. Recent genetic studies link predisposition to some diseases, including T2D, to alleles acquired from archaic hominins, such as Neanderthals and Denisovans, which persist in the genomes of modern humans today. Indo-Pacific human populations, including Indigenous Australians, remain extremely underrepresented in genomic research with a paucity of data examining the impact of Denisovan or Neanderthal lineages on human phenotypes in Oceania. The few genetic studies undertaken emphasize the uniqueness and antiquity of Indigenous Australian genomes, with possibly the largest proportion of Denisovan ancestry of any population in the world. In this review, we focus on the potential contributions of ancient genes/pathways to modern human phenotypes, while also highlighting the evolutionary roles of genetic adaptation to dietary and environmental changes associated with an adopted Western lifestyle. We discuss the role of genetic and epigenetic factors in the pathogenesis of T2D in understudied Indigenous Australians, including the potential impact of archaic gene lineages on this disease. Finally, we propose that greater understanding of the underlying genetic predisposition may contribute to the clinical efficacy of diabetes management in Indigenous Australians. We suggest that improved identification of T2D risk variants in Oceania is needed. Such studies promise to clarify how genetic and phenotypic differences vary between populations and, crucially, provide novel targets for personalised medical therapies in currently marginalized groups.

Keywords

Archaic human genes Genome-wide association studies Obesity Diabetes mellitus Indigenous Australians 

Notes

Acknowledgements

We acknowledge the Bedegal and Gadigal peoples, the Traditional Custodians of the lands of the University of New South Wales and the University of Sydney, and we pay our respects to Elders past, present and future, both Bedegal, Gadigal and all Indigenous groups across Australia. We acknowledge the “structural nature of our problem”, as put forth in the Statement from the Heart. Just as Indigenous lands have always been a learning space for Aboriginal nations, one of the oldest knowledge systems in the world, we offer our knowledge from a western science perspective as a shared path to redressing past and ongoing healthcare wrongs.

Compliance with ethical standards

Conflict of interest

There are no supporting grants or conflicts of interest to declare.

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Endocrinology DepartmentSutherland HospitalSydneyAustralia
  2. 2.St George & Sutherland Hospital Clinical SchoolUniversity of New South WalesSydneyAustralia
  3. 3.School of Life and Environmental Sciences, Charles Perkins CentreUniversity of SydneySydneyAustralia
  4. 4.The Palaeogenomics and Bio-Archaeology Research Network, Research Laboratory for Archaeology and History of ArtUniversity of OxfordOxfordUK
  5. 5.Statistics and Bioinformatics Group, School of Fundamental SciencesMassey UniversityPalmerston NorthNew Zealand

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