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Diabetes Gene Research Breakthrough

Posted: Friday, April 18, 2008

A genetic study of diabetes by scientists from Imperial College has been named as one of the hottest research papers of 2007. We may soon be able to predict who will get Type 2 diabetes.

The study, entitled "A genome-wide association study identifies novel risk loci for type 2 diabetes" was co-authored by two Professors from the Faculty of Medicine, Philippe Froguel and David Balding.

It was ranked fifth in Thomson Sciencewatch's list of the Hot Papers of 2007, which ranks papers according to how many times they are cited by researchers across the world, over the course of the year. The study was one of only two European papers in the top 10.

The research, published in the journal Nature, identified the most important genes associated with a risk of developing type-2 diabetes. This was the first time that the genetic makeup of any disease had been mapped in such detail.

The researchers identified four loci, or points on individuals' genetic maps, which corresponded to a risk of developing the disorder. They believe their findings explain up to 70% of the genetic background of type-2 diabetes. The research should enable scientists to develop a genetic test to show an individual their likelihood of developing the condition.

In addition, one of the genetic mutations which they detected might further explain the causes behind type-2 diabetes, potentially leading to new treatments. The research revealed that people with type-2 diabetes have a mutation in a particular zinc transporter known as SLC30A8, which is involved in regulating insulin secretion. Type-2 diabetes is associated with a deficiency in insulin and the researchers believe it may be possible to treat it by fixing this transporter.

The researchers identified four loci on individuals' genetic maps associated with a risk of developing type-2 diabetes
Professor David Balding, from the Division of Epidemiology, Public Health & Primary Care, said: "After years of relatively little success in finding genetic mechanisms underlying complex diseases such as diabetes, everything changed in 2007 when the knowledge and technology became available to conduct genome-wide genetic association studies.

"Our international collaboration, involving researchers in Canada, France and the UK, was the first large-scale study of this sort to be reported, and was followed by many others during the year. Two of the new genetic variants we uncovered have been widely replicated by other groups, and have initiated new avenues of research to understand the causes of type 2 diabetes," he added.

Professor Philippe Froguel, lead author of the paper from the Division of Medicine, continued: "The scientific community was very anxious to know if the fine analysis of the human genome diversity may help to elucidate the causes of common diseases. We were the first to respond ‘yes it does’ and that was confirmed by further replications of our data. The study is also important as it opened new avenues for both the prevention and treatment of diabetes.

Source: Diabetes In Control