Gene polymorphisms in calcium-calmodulin pathway: Focus on cardiovascular disease

Cardiovascular disease is the leading cause of death in industrialized countries and affects an increasing number of people. Several risk factors play an important role in the etiology of this disease, such as an unhealthy lifestyle and environment. It is increasingly clear that also genetic is a risk factor that contribute to modify the individual’s risk.
Thanks to the progress that has been made in understanding calcium signaling in the heart, it is assumed that calmodulin can play a crucial role in the heart, as in the mechanism of excito contraction coupling. In fact, calmodulin (CaM) binds calcium and consequently regulates calcium channels. Several works show how some polymorphic variants can be considered predisposing factors to complex pathologies. Therefore, we hypothesize that the identification of polymorphic variants of proteins involved in the CaM pathway could be important for understanding how genetic traits can influence predisposition to myocardial infarction.
Among the downstream protein to CaM, we focused our attention on CaMKK1, a calcium calmodulin dependent kinase kinase 1.
We identify a correlation between the single nucleotide polymorphism rs7214723 in CaMKK1 and the higher risk to develop CVD