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http://hdl.handle.net/10609/147768
Title: | Análisis de variantes en esclerosis múltiple en el sur de Europa |
Author: | Valls Carbó, Adrián |
Tutor: | Sánchez-Pla, Alex |
Others: | Comabella Lopez, Manuel |
Abstract: | Multiple sclerosis (MS) is a disease whose etiopathogenesis involves genetic and environmental factors. Known genetic factors so far explain only 48% of the estimated heritability of the disease. Genetic studies in the population of patients in southern Europe are scarce, so it is associated markers of the disease are unknown in this region. We genotyped with a single nucleotide polymorphisms (SNPs) microarray using Illumina MSChip in 232 patients and 232 cases of MS patients identified at Centre d'Esclerosi Multiple de Catalunya (CEMCAT, Spain). Eleven disease-associated loci were identified, all of them located in the major histocompatibility complex region between the HLA-DRA and BTNL2 genes. A literature review of the loci showed an association with HLA-DRB1*1501. No disease-associated polymorphisms were found outside the major histocompatibility complex. |
Keywords: | GWAS bioinformatics |
Document type: | info:eu-repo/semantics/masterThesis |
Issue Date: | 24-Dec-2021 |
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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adrianvallscTFM0123memoria.pdf | Memoria del TFM | 4,62 MB | Adobe PDF | View/Open |
adrianvallscTFM0123anexo.pdf | Anexo al TFM | 10,15 MB | Adobe PDF | View/Open |
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