Genetic variants in calcium calmodulin pathway in association with cardiovascular disease: focus on the potential role of CaMKK1 in heart and vessels

Cardiovascular disease (CVD) is the leading cause of death all over the world and affects an increasing number of people annually. Numerous risk factors are involved in the etiology of this complex disease. In addition to an unhealthy lifestyle, environmental factors, and other comorbidities, genetics also plays a role. The study of genetic variants associated with CVD is one of the main areas of interest nowadays. Research has shown that genetic variants, such as polymorphisms, can be factors predisposing to complex diseases. This thesis hypothesized that studying and characterizing polymorphisms in the components of the calcium calmodulin pathway, a key pathway involved in the physiology and molecular biology of the heart, could unravel how genetic traits influence CVD predispositions. Among different polymorphisms analysed, the rs7214723 in CAMKK1 (calcium calmodulin–dependent protein kinase kinase I) was found particularly interesting. Through in vitro studies on human vascular smooth muscle cells, the role of rs7214723 in CAMKK1 in the heart and blood vessels was analysed.