While knowing a person's genetic risk for diabetes is not significantly more predictive than a lifestyle assessment (family history, age, BMI, etc.) in determining whether a patient will develop diabetes, identifying genes contributing to the inherited risks for diabetes affords a greater understanding of the disease's pathophysiology. Learning about the underlying mechanisms of diabetes could one day lead to additional therapies and a cure.
International consortiums such as Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) provide the large groups of subjects necessary for genetic epidemiology studies. The CHARGE diabetes working group has searched for rare mutations altering the proteins coded by genes that affect diabetes, glucose, insulin, obesity and other related traits.
Mark Goodarzi, MD, PhD, director of the Division of Endocrinology, Diabetes and Metabolism and director of Endocrine Genetics Laboratory, is a member of CHARGE and collaborates with the Diabetes and Obesity Research Institute. He is the co-convener of the Type 2 Diabetes Working Group of CHARGE.
Unlike rare genetic diseases that are caused by a single gene mutation, diabetes has many gene contributors whereby each variant has a small effect. Genome mapping has allowed genetic researchers to discover greater numbers of genes affecting common traits or conditions such as diabetes. Genetic studies have elucidated zinc transporters in beta cells that could be a target for treating diabetes. Goodarzi's research also has reported that insulin clearance is more determined by genetics than is insulin resistance or insulin secretion. The insulin clearance genes may impact the risk of diabetes.