Identificación de polimorfismos en genes candidatos del cromosoma X asociados a enfermedades inmunitarias en la población europea
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2021-07-07
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Jaén: Universidad de Jaén
Resumen
[ES] Introducción: Una de las variaciones genéticas más estudiadas son los SNPs, los cuales son usados para realizar estudios GWAS, y así encontrar alguna asociación con distintas enfermedades. El cromosoma X está muy poco estudiado en estos estudios, y es por ello por lo que decidimos analizarlo.
Objetivos: La finalidad de este estudio fue encontrar aquellos genes que porten SNPs relacionados con distintas enfermedades asociadas a infecciones virales.
Material y Métodos: Mediante diferentes páginas web (como Ensembl o SNP Nexus), procedimos a estudiar los SNPs más significativos pertenecientes al sistema inmune y hallados en el cromosoma X.
Resultados: Pudimos encontrar 6 genes candidatos, además de ver una influencia de tanto SNPs intrónicos, como intergénicos de otras regiones en la expresión de los genes candidatos encontrados.
Conclusiones: Se destaca la importancia de CD40LG, TLR7 y TLR8 por su participación en rutas clave del sistema inmune, así como su asociación con distintas enfermedades.
[EN] Introduction: One of the most studied genetic variations are SNPs, which are used to carry out GWAS studies, and thus find an association with different diseases. The X chromosome is very little studied in these studies, and that is why we decided to analyze it. Objectives: The purpose of this study was to find those genes that carry SNPs related to different diseases associated with viral infections. Material and Methods: Through different web pages (such as Ensembl or SNP Nexus), we proceeded to study the most significant SNPs belonging to the immune system and found on the X chromosome. Results: We were able to find 6 candidate genes, in addition to seeing an influence of both intronic and intergenic SNPs from other regions on the expression of the candidate genes found. Conclusions: The importance of CD40LG, TLR7 and TLR8 is highlighted due to their participation in key pathways of the immune system, as well as their association with different diseases.
[EN] Introduction: One of the most studied genetic variations are SNPs, which are used to carry out GWAS studies, and thus find an association with different diseases. The X chromosome is very little studied in these studies, and that is why we decided to analyze it. Objectives: The purpose of this study was to find those genes that carry SNPs related to different diseases associated with viral infections. Material and Methods: Through different web pages (such as Ensembl or SNP Nexus), we proceeded to study the most significant SNPs belonging to the immune system and found on the X chromosome. Results: We were able to find 6 candidate genes, in addition to seeing an influence of both intronic and intergenic SNPs from other regions on the expression of the candidate genes found. Conclusions: The importance of CD40LG, TLR7 and TLR8 is highlighted due to their participation in key pathways of the immune system, as well as their association with different diseases.