Genetic investigation of endocrine hypertension by a panel of susceptibility genes

• Grant number: 18/15331-6
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: December 01, 2018
• End date: November 30, 2019
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Madson Queiroz Almeida
• Grantee: Augusto Garcia Guimarães
• Host Institution: Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP). Secretaria da Saúde (São Paulo - Estado). São Paulo , SP, Brazil

Abstract

Arterial hypertension (AH) is a major cardiovascular risk factor that affects 10% to 40% of adults. In young adults (<40 yrs), secondary AH has a prevalence of around 30%. Among endocrine disorders, AH is the main clinical manifestation of patients with primary aldosteronism (PA) and pheochromocytomas and paragangliomas (PPGLs). The aims of this project is to investigate the genetic causes of PA and PPGLs. Considering the increasing number of susceptibility genes involved in the pathogenesis of PA and PPGLs, a massive parallel sequencing panel is the most cost-effective and less time-consuming way for genetic screening of these patients. The specific aims of subproject 1 are: To investigate germline and somatic variants in the genes previously associated with PA phenotype (KCNJ5, CACNA1D, CACNA1H, ATP1A1, ATP2B3, CTNNB1 and CLCN2); To investigate variants in the susceptibility genes (panel with 26 genes associated with PPGLs) in high risk patients for a positive genetic test (patients with PPGLs and age <40 yrs at diagnosis and with malignant PPGLs). Then, we expect to expand the genetic diagnosis for secondary AH, contributing to an early diagnosis of PA and PPGL patients.