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Approches intégrées du génome et du transcriptome dans les maladies complexes humaines

Abstract : This thesis deals with the study of the relation between genotype and expression and its influence on the development of complex diseases. This work brings both methodological and applied results.First, we study the relation between genotype and transcriptome by establishing a database of eQTL (expression quantitative Trait Loci) in monocytes and we evaluate the contribution of eQTL for the interpretation of results from Genome Wide Association Studies (GWAS).We then provide a methodology for the identi_cation of genetic polymorphisms regulating modules of co-expressed genes that we apply to a large scale populationnal study of the monocyte transcriptome.We thus identify several loci associated with modules of co-regulated genes, several of which are involved in the susceptibility to type I diabetes. We also show that the isolation of monocytes can induce complex bias through contamination from unwanted cell types and we provide a method to control for such bias in the analysis.
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Submitted on : Wednesday, February 1, 2012 - 2:48:09 PM
Last modification on : Wednesday, January 19, 2022 - 3:38:11 AM
Long-term archiving on: : Wednesday, May 2, 2012 - 2:36:05 AM


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  • HAL Id : tel-00665244, version 1



Maxime Rotival. Approches intégrées du génome et du transcriptome dans les maladies complexes humaines. Génétique. Université Paris Sud - Paris XI, 2011. Français. ⟨NNT : 2011PA11T035⟩. ⟨tel-00665244⟩



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