12 new gene variants that impact individual's risk of developing type 2 diabetes identified

Jun 28 2010

An international consortium including Helmholtz Zentrum München and the German Diabetes Center, Düsseldorf has identified 12 new gene variants which impact the individual's risk of developing type 2 diabetes. The study represents a major contribution towards elucidating the complex pathogenesis of this important widespread disease. Nature Genetics has published the findings of this study in its current issue.

To elucidate the genetic causes of type 2 diabetes, scientists from Germany, the U.S., Great Britain, Iceland and eight other countries analyzed the data of more than 140,000 study participants. The scientists were able to identify 12 new genetic risk factors, of which 11 influence insulin production or the effect of insulin. Moreover, for the first time, a genetic association of type 2 diabetes with the X chromosome was proven. This could be a first clue to the gender-specific differences in diabetes risk: Women have two X chromosomes, men have one X and one Y chromosome. Altogether, 38 genetic risk factors are currently known for type 2 diabetes mellitus.

"Once we know the exact causes of type 2 diabetes, we can develop more effective prevention and therapy strategies," said Dr. Thomas Illig, research group leader at the Institute of Epidemiology of Helmholtz Zentrum München and one of the corresponding authors of the study. Dr. Cornelia Huth, who played a key role in the selection of the study participants and the analyses of Helmholtz Zentrum München, added: "What enabled us to identify these factors with a high level of confidence is the large number of investigated subjects in this collaborative study. Each factor by itself contributes only slightly to the entire diabetes risk. But to find out more about the pathogenic mechanisms of the disease, even these slight contributions are important." Dr. Christian Herder and Dr. Wolfgang Rathmann, both of whom are research group leaders at the German Diabetes Center, pointed out: "One important finding of the new study is that some of the gene loci associated with increased type 2 diabetes risk are also risk variants for other diseases such as coronary heart disease, autoimmune diseases and cancer. This suggests that specific proteins could be relevant for several diseases at the same time."

Type 2 diabetes is a disorder of glucose homeostasis. Characteristic features of this disorder are that the effect and sufficient production of the hormone insulin become lost. The pathogenic mechanisms of this disease are not yet fully understood. It is known, however, that the combination of genetic susceptibility and lifestyle factors leads to diabetes. In Germany alone, not less than seven percent of the population has been diagnosed with the disease - altogether almost six million people. Additionally, studies show that several million men and women in Germany suffer from as yet undiagnosed and thus untreated diabetes.