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The PPARGC1A gene regulates genes involved in energy metabolism. [1] [2] Since type 2 diabetes is characterized by chronic hyperglycaemia as a result of impaired pancreatic beta cell function [3] and insulin resistance in peripheral tissues, [4] it was thought that the gene might be downregulated in type 2 diabetes patients through DNA methylation.
As of 2011 more than 36 genes have been found that contribute to the risk of type 2 diabetes. [2] All of these genes together still only account for 10% of the total genetic component of the disease. [2] There are a number of rare cases of diabetes that arise due to an abnormality in a single gene (known as monogenic forms of diabetes). [1]
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