Compugen Ltd. (NASDAQ:CGEN) announced today the discovery and experimental confirmation of a genetic biomarker, CGEN-40001 for predisposition to type 2 diabetes, the most common form of diabetes. This new biomarker was discovered using Compugen’s GeneVa® platform, which consists of an in silico database of approximately 350,000 predicted genetic variations in the human genome, with each predicted variation consisting of multiple consecutive nucleotides.
Predisposition markers are of particular value in diseases like type 2 diabetes, where specific lifestyle and health factors are known to play an important role. Following diagnosis, high-risk patients may benefit from more aggressive management either through lifestyle modification or drug treatment. There are an estimated 24 million people in the U.S. with diabetes, 90% of whom are affected by type 2 diabetes. During the past few years, extensive efforts by others searching for genetic markers for type 2 diabetes have utilized numerous genome-wide association studies, involving thousands of patients globally. Several validated genetic markers have been found; however, combining all the discovered biomarkers still explains only a small fraction of the heritability of the disease, so the need for additional markers continues to exist.
From the approximately 350,000 multiple nucleotide genetic variations predicted by the GeneVa® platform, a very small set of variations was selected as being potentially related to type 2 diabetes in Caucasians. This very small set, consisting of only 135 variations, was then tested in a genotyping experiment. In this study, CGEN-40001, a novel 15bp insertion in PFKP (a key regulatory enzyme in glycolysis), demonstrated the predicted correlation with type 2 diabetes in Caucasians. This correlation was then validated in a second study based on an independent set of samples. According to the two studies performed by Compugen, approximately 15% of the Caucasian population has at least one copy of this insertion. Furthermore, the studies showed that the presence of this insertion increases the risk of type 2 diabetes by 50-80%.