Researchers have discovered three uncommon genetic variants that influence the production of insulin. The finding, published in the journal Nature Genetics, could help uncover the genetic factors that cause diabetes.
Diabetes is a disease which occurs when someone has very high blood sugar levels due to the pancreas not producing enough insulin or the bodies cells not responding to insulin properly. This causes serious thirst, hunger, need to urinate as well as increasing risk of developing cardiovascular diseases and obesity.
According to Karen Mohlke, PhD, a senior author of the study and associate professor of genetics at the University of North Carolina School of Medicine: “Studying genetic variants, even rare ones, helps us learn how genes affect health and disease. In this study, we’ve implicated new genes as playing a role in insulin processing and secretion.”
The study is the first of its kind to use exome array genotyping as a means of gathering genetic information. The tool allowed them to efficiently screen a large number of DNA samples for any specific genetic variations.
“The exome array allowed us to test a large number of individuals in this case, more than 8,000 people very efficiently. We expect that this type of analysis will be useful for finding low-frequency variants associated with many complex traits, including obesity or cancer.”
The researchers analyzed data from a large study carried out by the University of Eastern Finland. This included the health records and genetic data of a sample of 8,229 Finnish males, which they used to find any possible gene variations that could be linked with diabetes.
Genetic variations that can cause abnormal insulin production were found in three genes (TBC1D30, PAM and KANK1). These genes can cause problems among people without diabetes and even cause them to develop the disease.
The team plans on continuing their research to find out more about how these genes are associated with diabetes. They anticipate that their success of using exome analysis will help drive other researchers in finding the genetic causes of other diseases.
The principal authors of the study were Karen Mohlke, PhD, Michael Boehnke, PhD, of the University of Michigan, Ann Arbor and Markku Laakso, MD, of the University of Eastern Finland and Kuopio University Hospital. The study was funded by the National Human Genome Research Institute (NHGRI) and the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).
Written by Joseph Nordqvist