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Mixed models in genetic mapping of the cardiovascular risk factors in brazilian families using SNPs data

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Mirian de Souza
Total Authors: 1
Document type: Master's Dissertation
Press: São Paulo.
Institution: Universidade de São Paulo (USP). Instituto de Matemática e Estatística (IME/SBI)
Defense date:
Examining board members:
Julia Maria Pavan Soler; Viviana Giampaoli; Suely Ruiz Giolo
Advisor: Julia Maria Pavan Soler

The study of complex diseases such as hypertension and glucose is of great importance in the medical field because these diseases affect many people in the world and its pattern of variation involves environmental and genetics components and their possible interactions. For genes mapping the human genome sampling is performed by means of molecular markers platforms, generally including two kinds of markers: the type microsatellite and SNPs (Single Nucleotide Polimorphisms). The family data is commonly analyzed by mixed models and random effects microsatellite markers and the case-control studies with unrelated individuals have been linked to data from SNPs. In this context the question arises of how to model the SNP on family data because it can be modeled as a fixed or random factor. In order to bring contributions to this discussion, one of the objectives of this study is to propose a simulation exercise and analysis of genetic data to facilitate the teaching and understanding of concepts of genetics and gene mapping modeled from fixed or random effects using software R. Furthermore, analysis of data involving dense maps of SNPs is necessary to overcome the problem of multiple tests, and the proposal multistage Aulchenko et al. (2007) is an alternative analysis in which the effect of SNP is modeled as a fixed factor and associated with a residual component. So there is also a challenge of this study to apply the multistage model for the mapping of genes and discuss their advantages and limitations. (AU)

FAPESP's process: 09/04111-6 - Mixed Models in the Genetic Mapping of the Cardiovascular Risk Factors in Brazilian Families Using SNPs Data
Grantee:Mirian de Souza
Support Opportunities: Scholarships in Brazil - Master