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http://hdl.handle.net/10609/96467
Title: | Integrative analysis of DNA methylation and gene expression in Schizophrenia |
Author: | Eugui Anta, Estefanía Irene |
Tutor: | Brunel, Helena |
Others: | Merino, David |
Abstract: | Genome-wide association studies have identified a number of single nucleotide polymorphisms associated with Schizophrenia (SZ). Moreover, increasing body of evidence suggests a complex connection of SNPs and epigenetic regulation of gene expression, which, up to now, is not fully understood. Integrative analyses that use genetic data from multi-omics studies to detect DNA methylation sites associated with gene expression and SZ phenotype might constitute a major approach able to elucidate how SZ-associated SNPs affect the disease traits throughout genetic regulation of transcriptional output. To test this hypothesis we performed an exploratory integrative quantitative association analysis to obtain summary statistics data for SZ severity associated SNPs and methylation sites of 10 drug-na¨¿ve SZ cases. We firstly identified a significant SZ-associated SNP (adjusted P < 8×10¿8 ), located on a non-coding region of chromosome 16 downstream a lncRNA gene (Long intergenic non-coding RNAs), a type of genes known for being dysregulated in SZ. At a less restrictive significant P (< 0.01), we found 341 common genes to significant SNP and CpG SZ-associated sites. We further investigate the association of these genes with a previous SZ-RNA sequencing study containing a set of 200 up and down regulated genes. 16 genes were identified as being differentially expressed in SZ. Remarkably, 3 of them (SHANK2, SGK1 and TCN2 ) had been previously described in the literature as being involved in SZ. The methodology presented here, might be novel and useful tool to further dilucidate SZ physiopathology. |
Keywords: | gene expression schizophrenia methylation |
Document type: | info:eu-repo/semantics/masterThesis |
Issue Date: | 4-Jun-2019 |
Publication license: | http://creativecommons.org/licenses/by-nc-nd/3.0/es/ |
Appears in Collections: | Trabajos finales de carrera, trabajos de investigación, etc. |
Files in This Item:
File | Description | Size | Format | |
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eeuguiTFM0619memoria.pdf | Memoria del TFG | 2,38 MB | Adobe PDF | View/Open |
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