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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 type:Scholarships abroad - Research Internship - Post-doctor
Effective date (Start): February 05, 2017
Effective date (End): November 04, 2017
Field of knowledge:Biological Sciences - Genetics
Principal Investigator:Fernando Cendes
Grantee:Rodrigo Secolin
Supervisor abroad: David Comas
Home Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
Local de pesquisa : Universitat Pompeu Fabra (UPF), Spain  
Associated to the scholarship:13/19524-0 - Genetic association studies in mesial temporal lobe epilepsy and stroke, BP.PD


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.