The Review of Diabetic Studies

Association Between Genetics of Diabetes, Coronary Artery Disease, and Macrovascular Complications: Exploring a Common Ground Hypothesis

André G. Sousa , Lívia Selvatici , José E. Krieger, Alexandre C. Pereira
Laboratory of Genetics and Molecular Cardiology, Heart Institute, University of São Paulo Medical School, São Paulo, Brazil.


Type 2 diabetes and coronary artery disease (CAD) are conditions that cause a substantial public health burden. Since both conditions often coexist in the same individual, it has been hypothesized that they have a common effector. Insulin and hyperglycemia are assumed to play critical roles in this scenario. In recent years, many genetic risk factors for both diabetes and CAD have been discovered, mainly through genome-wide association studies. Genetic aspects of diabetes, diabetic macrovascular complications, and CAD are assumed to have intersections leading to the common effector hypothesis. However, only a few genetic risk factors could be identified that modulate the risk for both conditions. Polymorphisms in TCF7L2 and near the CDKN2A/B genes seem to be of great importance in this regard since they appear to modulate both conditions, and they are not necessarily related to insulinism, or hyperglycemia, for CAD development. Other issues related to this hypothesis, such as the problems of phenotype heterogeneity, are also of interest. Recent studies have contributed to a better understanding of the complex genetics of diabetic macrovascular complications. Much effort is still needed to clarify the associations in the genetics of diabetes, and cardiovascular disease. At present, there is little genetic evidence to support a common effector hypothesis, other than insulin or hyperglycemia, for the association between these conditions.

diabetes · coronary artery disease · HLA · polymorphism · genome-wide association study,.



Demosthenes Panagiotakos

Abbreviation Title

Rev Diabet Stud