12 July 2016
Mammoth international study of type 2 diabetes finds little evidence that rare diabetes associated variants contribute significantly to disease risk.
Type 2 Diabetes is a global health concern, one person in every ten is likely to either have the disease or develop it within their lifetime, the risk of developing diabetes based on genetics has previously been difficult to ascertain.
Although previous work has identified a large number of common variants associated with diabetes, individually they do not make a statistically major impact to the risk of developing the disease. This has led researchers to believe that there must be a few unknown rare variants with significant links to diabetes, the international study ‘The genetic architecture of type 2 diabetes’ set out to prove this hypothesis.
Pooling the work of over 300 scientists, across 22 countries and from over 150 institutions the study is based upon data from over 120,000 genomes. Despite its scale, researchers were unable to identify any significant contributors to disease risk. Although they identified a few previously unknown variants, they concluded that the risk was not influenced by a few rare variants, but instead could be attributed to the large number of commonly found variants shared by populations across the globe which together make the main contribution to the risk profile.
Mark McCarthy, from the Wellcome Trust Centre for Human Genetics at the University of Oxford, one of three senior authors of the paper, said that the ‘study highlights both the challenges we face, and the opportunities that exist in resolving the complex processes underlying a disease such as type 2 Diabetes’.