Gene found that increases risk of type 2 diabetes tenfold

by Barbara Hewitt on September 11, 2014

Researchers have found a gene variant that increases by tenfold the risk of developing type 2 diabetes, which provides unique knowledge about the pathophysiological mechanism that leads to the disease.

They have mapped a special gene variant among people in Greenland that suggests genetic explanations of diabetes are best achieved in small populations. It is hoped that this knowledge can be used to improve prevention and treatment options for those genetically at risk.

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Researchers found a gene variant in the population of Greenland which greatly increases the risk of developing type 2 diabetes

Researchers at the University of Copenhagen, in collaboration with the Steno Diabetes Centre and University of Southern of Denmark, carried out the ground breaking genetic analysis based on blood samples from 5,000 people, or around 10% of the population of Greenland.

‘We have found a gene variant in the population of Greenland which markedly increases the risk of developing type 2 diabetes. The gene variant is only found in Greenlanders and explains 15% of cases of diabetes in the country,’ said Professor Torben Hansen from the Novo Nordisk Foundation Centre for Basic Metabolic Research at the University of Copenhagen.

The study was a challenge in several ways. Collecting samples from 10% of the population of such a large country was a huge logistical task, and it was only possible because so many Greenlanders volunteered to participate. Additionally, the study was a statistical challenge as many of the participants are of both Inuit and European ancestry and many of the participants are related.

Professor Marit Eika Jørgensen, Honorary Professor at the University of Southern Denmark in metabolic diseases in the Inuit population in Greenland, said this meant that the team had to develop new analysis methods.

Using advanced gene chip technology, the Danish team analysed the 5,000 blood samples for 250,000 gene variants which play a role in metabolic diseases such as diabetes, obesity and cardiovascular disease.

‘Our attention was quite soon caught by a particular variant of the TBC1D4 gene which controls glucose uptake in muscle cells. Roughly speaking, this means that in carriers of this particular gene variant, the uptake of glucose by the muscles is hampered, for example, after a meal, which results in raised blood glucose levels,’ said Assistant Professor Niels Grarup from the Novo Nordisk Foundation Centre for Basic Metabolic Research at the University of Copenhagen.

‘However, this particular gene variant is primarily found in Greenlanders, and about 23% of the Greenlandic population are carriers of the variant which prevents the optimum functioning of the glucose transporters in the cells. The gene variant is not found in Europeans at all,’ he added.

The results showed that 60% of participants aged 40+ who have inherited the gene variant from both their mother and their father have type 2 diabetes. For the 60 plus group, the figure is 80%.

‘If you have inherited the gene variant from both your parents, the risk of developing diabetes is, of course, extremely high. This was the case for 4% of the Greenlanders we examined. We already know of a number of gene variants in European populations which slightly raise the risk of developing diabetes, but this new gene variant has a much more pronounced effect than we have ever seen before’ said Grarup.


The opinions expressed in this article do not necessarily reflect the views of the DiabetesForum.com Community and should not be interpreted as medical advice. Please see your doctor before making any changes to your diabetes management plan.

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