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Title: ¿Comparación de efectos epistáticos en interacción de polimorfismos (SNPs) y genes en enfermedades complejas?
Author: Pizarro Inostroza, Maria Gabriela
Director: Sastre Tomas, Jaime
Tutor: Ventura Royo, Carles  
Others: Universitat Oberta de Catalunya
Keywords: complex diseases
epistasis
biostatistics
Issue Date: 2-Jan-2018
Publisher: Universitat Oberta de Catalunya
Abstract: The epistasis, commonly defined as the interaction between genes, is an important genetic component that underlies phenotypic variation and aims to identify the genetic variables that are related or influenced with a particular risk disease. In recent years various statistical methods have been developed to model and identify genetic variants between epistatic interactions. However, due to the large combinatorial space to search interactions, the efficiency of the software used is often not enough to evaluate all possible interactions between genes and SNPs. Therefore, in the present study and to determine interactions between genes or SNPs, statistical methods using Plink and BEAM software were compared. 1050 individuals, distributed in 525 cases and 525 controls with 500 SNPs were studied. The parameters used to compare these methods are TRUE / FALSE POSITIVE / NEGATIVE, since approaches to logistic regression in combination with a Bayesian model approach to facilitate a more appropriate setting for the analysis and interpretation of data in studies of interactions between genes and SNPs. The results obtained for the analysis of epistasis show that there is no significant difference between SNPs interactions to analyze data using Plink. However for BEAM, a interaction was observed in the SNPs rs541178226611 and rs831225245351 associated with greater frequency in diseases carcinomas-related. In conclusion, BEAM software is more exhaustive than Plink to determine interactions between SNPs.
Language: Spanish
URI: http://hdl.handle.net/10609/73206
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