Study of genetic variants associated with overweight and obesity in semi-isolated Brazilian populations from quilombo remnants

• Grant number: 24/16454-5
• Support Opportunities: Scholarships in Brazil - Master
• Start date: February 01, 2025
• End date: January 31, 2026
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Regina Célia Mingroni Netto
• Grantee: Sophia Lincoln Cardoso de Azevedo
• 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
• Associated scholarship(s): 25/07484-0 - Study of genetic variants associated with overweight and obesity in partially isolated Brazilian populations from remnants of quilombos communities, BE.EP.MS

Abstract

Overweight and obesity (OWO) are growing concerns in the public health field due to their association with different mortality causes. Genomic researches have been focousing on European ancestry cohorts, therefore there is a significant gap regarding genetic variants that might increase susceptibility to OWO in non-white and mixed-race populations, such as the Brazilian population. In this sense, the aim of the current study is to identify genetic variants associated with OWO in a cohort of 662 African descent individuals from quilombos remnants in Vale do Ribeiro region, in the state of São Paulo, that were previously clinically evaluated and genotyped. To do this, we will conduct admixture mapping studies to identify genomic regions differentially enriched to one of the three quilombola communities' ancestries, when people with and without OWO are compared. These regions will be hold as candidates regions that might contain variants predisposing to the phenotype. The results will then be refined through an in silico search in exome and genome sequencing data of members of our cohort. Finally, we will evaluate the performance of previously calculated polygenic risk score models available in the literature when applied to our database of genotypes and phenotypes. We hope to contribute to the set of information on genetic variants that determine OPS in non-white and mixed-race populations and on the portability of results from studies produced in other populations to the Brazilian population.