Studying the genetic structure of a population from a specific geographic region: a comparative study using common, rare and structural variants.

• Grant number: 16/14423-9
• Support Opportunities: Scholarships abroad - Research Internship - Post-doctor
• Start date: February 05, 2017
• End date: November 04, 2017
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Fernando Cendes
• Grantee: Rodrigo Secolin
• Supervisor: David Comas
• Host Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
• Institution abroad: Universitat Pompeu Fabra (UPF), Spain

Abstract

Population structure and ancestry estimation have been successfully used in order to take population differences into account in association studies. However, it is necessary to have good ancestry knowledge of the population under investigation. Previous studies have evaluated population structure and ancestry in Brazilian individuals. However, most of them were limited by i) the number of individuals analyzed, ii) by the small number of polymorphic markers studies, and iii) were not representative of important regions in Brazil, such as the state of São Paulo. We have generated genotype data from high-density single nucleotide polymorphism (SNP)- arrays, whole genome sequencing (WES), and copy number variations (CNVs), available from the same cohort. Therefore, by the integration of these data, we aim to analyze population structure and ancestry of 350 unrelated reference individuals and 350 individuals with mesial temporal lobe epilepsy with hippocampal sclerosis (MTLEHS) which were assessed at UNICAMP university hospital. In addition, we will perform additional types of analyses in the MTLEHS cohort in order to improve our chances of identifying susceptibility locus(ci) for the disease. We believe that this study can reveal new and relevant information about population ancestry and fine genetic structure, which will be crucial not only to our own studies but also to genetic association studies currently being performed in cohorts originating from the state of São Paulo.

Scientific publications

(The scientific publications listed on this page originate from the Web of Science or SciELO databases. Their authors have cited FAPESP grant or fellowship project numbers awarded to Principal Investigators or Fellowship Recipients, whether or not they are among the authors. This information is collected automatically and retrieved directly from those bibliometric databases.)

SECOLIN, RODRIGO; MAS-SANDOVAL, ALEX; ARAUNA, LARA R.; TORRES, FABIO R.; DE ARAUJO, TANIA K.; SANTOS, MARILZA L.; ROCHA, CRISTIANE S.; CARVALHO, BENILTON S.; CENDES, FERNANDO; LOPES-CENDES, ISCIA; et al. Distribution of local ancestry and evidence of adaptation in admixed populations. SCIENTIFIC REPORTS, v. 9, SEP 25 2019. (13/07559-3, 16/14423-9)