Study of Genetic and Epigenetic Components in the Predisposition of Essential Hypertension in Afro-Brazilian Populations

• Grant number: 24/23773-0
• Support Opportunities: Scholarships in Brazil - Doctorate
• Start date: June 01, 2025
• End date: July 31, 2027
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Regina Célia Mingroni Netto
• Grantee: Camila Cristina Avila Martins
• Host Institution: Instituto de Biociências (IB). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Associated research grant: 13/08028-1 - CEGH-CEL - Human Genome and Stem Cell Research Center, AP.CEPID

Abstract

Essential Hypertension (EH) is a multifactorial condition characterized by chronic elevation of blood pressure (¿140/90 mmHg), with high global prevalence and significant impacts. Genomic studies have advanced the understanding of its genetic basis but still fail to explain its entire heritability, especially in admixed populations such as the Brazilian one. Investigating EH from a genetic and epigenetic perspective in populations with diverse ancestral components may help address this gap. Due to their unique genetic characteristics and the previously observed high frequency of hypertension, quilombola communities in the Vale do Ribeira region, São Paulo, were selected for this study.We propose to evaluate whether specific genomic variants increase predisposition to hypertension, whether these variants are located in chromosomal segments inherited from specific ancestral components (European, Native American, and/or African), and whether alterations in DNA methylation patterns are associated with susceptibility to EH development in the Afro-Brazilian population. To achieve this, we aim to investigate the genetic and epigenetic bases of hypertension predisposition through three approaches: Genome-Wide Association Studies (GWAS), Admixture Mapping, and massive parallel sequencing to detect methylation levels in specific genomic regions.Our goal is to elucidate whether genetic and epigenetic mechanisms influence the development of essential hypertension in these populations and to determine whether these mechanisms are related to ancestry. Combining these techniques may provide a robust approach to studying hypertension, potentially revealing new genes associated with this condition and, consequently, suggesting novel treatments and preventive strategies. (AU)