The familial hypercholesterolemia (FH) is an inherited autosomal dominant disorder that predisposes premature development of cardiovascular diseases, such as atherosclerosis, myocardial infarction and coronary disease. The clinic phenotype starts to develop in heterozygous patients (HeFH) at fourth decade of life in men and at fifth in women. Homozygous patients (HoFH) presents cardiovascular events that occurs at first decade of life. By early adulthood, these patients without treatment have one hundred times greater mortality risk from cardiovascular diseases when compared to those without FH. In this context, the renin-angiotensin-aldosterone system (RAAS), which participates of the extracellular fluid regulation, sodium balance and cardiovascular functions, is involved in the development of cardiovascular diseases. Studies show that genetic polymorphisms in angiotensin converting enzyme (ACE), angiotensin type 1 receptor (AT1) and angiotensinogen (AGT), predispose to a higher risk development of myocardial infarction, coronary disease in FH patients. However, there are not studies exploring genetic alterations in others majors RAAS components, such as the ACE2, aminopeptidase A (APA), aminopeptidase N (APN) and neprilysin (NEP) enzymes and still, the AT2 and Mas receptors. Besides, there are not studies investigating genes polymorphisms of ACE, AGT and AT1 receptor in the brazilian population of FH, and its frequency to determinate the associated risks of cardiovascular diseases. Therefore, in this study we intend to investigate new polymorphisms and genetic alterations in others majors RAAS pathways, besides studying the already validate genes of ACE, AGT and AT1 receptor of our FH population, as well as its relation to risk development of cardiovascular diseases.
News published in Agência FAPESP Newsletter about the scholarship: