Researchers from Greenland and Copenhagen have uncovered a gene variant responsible for a ten fold increase in type 2 diabetes risk.
The variant of the TBC1D4 gene was found from genetic analysis of the population of Greenland. The researchers benefited from the help of the people of Greenland who volunteered in large numbers to take part in the study.
2,575 people in Greenland with diagnosed type 2 diabetes took part in the study. The researchers used genetic mapping to search for any surprising links between specific gene variants and risk of type 2 diabetes.
Out of the gene variants reviewed, one variant, the p.Arg684Ter variant of the TBC1D4 gene stood out as conferring a weighty ten fold increased risk of type 2 diabetes. The TBC1D4 gene helps muscle to take in glucose from the blood. However, in people with the p.Arg684Ter variant, glucose uptake by the muscle is impaired and therefore high blood glucose levels result.
The researchers found that if people had inherited the gene variant from both parents those participants over the age of 40 years old had a 60% chance of developing type 2 diabetes and those over 60 years old had an 80% chance of developing the condition.
The study showed that whilst only 4% of the Greenland population have a copy of the affected gene variant from both parents, these people represent 15% of the diabetic population of Greenland. This gene variant has a high prevalence in Greenland, with 23% of the population carrying the variant, however, the gene is thought to be virtually non-existent in Europeans outside of Greenland.
The researchers believe that environmental and social factors, such as significant changes to people’s diet and levels of physical activity, are likely to have been additional aggravating factors adding to the already high risk in affected individuals. However, until specific research can be carried out, the researchers note that these factors can only be regarded as speculation.

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