Extensive genetic mapping could significantly impact the treatment of metabolic diseases in Greenland

As part of a large international collaboration led by the Department of Biology at the University of Copenhagen, researchers have, for the first time, analyzed genomes from 6,000 Greenlanders, as part of a series of population health surveys in Greenland. The research is published in the scientific journal Nature

The results show that Greenland’s population has fewer genetic variants, but that many of them are common in Greenland. In contrast, Europeans have a larger number of genetic variants, though most of them are rare. This could help explain why certain metabolic diseases are more prevalent in Greenland, while other diseases are entirely absent among Greenlanders. This new knowledge could make it easier to detect serious diseases earlier.

"Previously, only small segments of the Greenlandic genome had been studied. Now, we have conducted the most thorough analysis to date, covering the entire genome. This provides a much more complete picture of Greenland’s genetic heritage. This breakthrough could have significant implications for how metabolic diseases are diagnosed and treated in the future," says Professor and research leader Anders Albrechtsen from the Department of Biology at the University of Copenhagen.

A Different Distribution of Genetic Disease

Due to its genetic disease profile approximately five percent of the Greenlandic population has a significantly increased risk of developing diabetes. Moreover, the globally rare sucrose intolerance affects around four percent of Greenland’s population, while its prevalence in Europe is as low as one in 50,000. The researchers have now found out why: they found that the mutation causing sucrose intolerance first emerged 10,000 years ago and is only shared among the Arctic populations.

On the other hand, many diseases that are widespread in other countries are very rare or completely absent in Greenland. This is because Greenland has historically been isolated from other parts of the world, where genetic diseases have been introduced through gene-flow.

"We have shown that the genetic disease profile in Greenland differs from that of other populations. However, this does not mean it is better or worse — it simply means that Greenlanders develop genetic disease due to few specific genetic factors, whereas in other populations, many genetic factors contribute. In Greenland, single genes often play a significant role in disease development, whereas in Europe, many genes each contribute a small effect," explains Anders Albrechtsen.

Reducing the Risk of Misdiagnosis

The study also highlights the importance of including Greenlandic genetic summary data in international gene databases used for diagnostics.

Currently, diagnosing genetic diseases in Greenland can be challenging because these databases are primarily based on genetic data from European and Asian populations. However, with this new genetic mapping, researchers demonstrate that a genetic database with Greenlandic representation could become one of the best in the world.

"Our analysis shows that by incorporating results from the Greenlandic genomes, we not only improve diagnostics but can actually surpass the accuracy seen in many European populations," explains Marit Eika Jørgensen from Steno Diabetes Center Greenland in Nuuk.

Improving Treatment

Researchers hope that these discoveries will have an impact on healthcare in Greenland and other Arctic populations. For instance, doctors could use the genetic mapping of the Greenlandic population to improve the diagnosis of genetic diseases.

"It is important to us that this project benefits the Greenlandic population. We hope that our research can serve as a foundation for better and more targeted treatment in Greenland," says Marit Eika Jørgensen.

The study also presents an exciting perspective. The genetics of Greenland’s population makes it easier to develop precision medicine — treatments tailored to a patient based on their genetics.

"We expect that some diseases can be prevented or treated more effectively if we actively use genetic data. This presents a clear opportunity to improve healthcare, both in Greenland and for other populations in the Arctic region," concludes Marit Eika Jørgensen.