{"id":116903,"date":"2018-03-11T10:46:12","date_gmt":"2018-03-11T10:46:12","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/identification-and-functional-analysis-of-genetic-risk-variants-for-multiple-sclerosis\/"},"modified":"2018-03-11T10:46:12","modified_gmt":"2018-03-11T10:46:12","slug":"identification-and-functional-analysis-of-genetic-risk-variants-for-multiple-sclerosis","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/genetica-humana\/identification-and-functional-analysis-of-genetic-risk-variants-for-multiple-sclerosis\/","title":{"rendered":"Identification and functional analysis of genetic risk variants for multiple sclerosis"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Aitzkoa Lopez De Lapuente Portilla <\/strong><\/h2>\n<p>Mediante una estrategia de genes candidatos, se han realizado varios estudios de asociaci\u00f3n gen\u00e9tica en esclerosis m\u00faltiple. Polimorfismos de un solo nucle\u00f3tido (snps) en tres genes (socs1, il22ra2 y ankrd55) han sido identificados y confirmados como variantes de riesgo noveles para la enfermedad. Adem\u00e1s, la asociaci\u00f3n de otro gen candidato, il28ra, ha sido convincentemente descartada. Dos de los genes candidatos confirmados, socs1 y ankrd55, han sido estudiados funcionalmente en relaci\u00f3n con la enfermedad. Por medio de pcr cuantitativa y citometr\u00eda de flujo, se ha observado una sobrerregulaci\u00f3n de socs1 en pacientes con esclerosis m\u00faltiple remitente-recidivante (emrr) en fase de brote, en c\u00e9lulas t (cd4+ y cd8+). Sin embargo, en el subtipo de c\u00e9lulas t reguladoras (tregs) el porcentaje de c\u00e9lulas que expresan socs1 durante el brote es menor que durante la remisi\u00f3n. Adem\u00e1s, se han observado interacciones significativas espec\u00edficas de tipo celular entre el genotipo del snp con mayor evidencia estad\u00edstica de asociaci\u00f3n, rs423674, y la actividad de la enfermedad (brote o remisi\u00f3n), as\u00ed como una mayor tendencia a la diferenciaci\u00f3n y maduraci\u00f3n in vitro de c\u00e9lulas dendr\u00edticas en los pacientes con emrr homocigotos para el alelo de riesgo con respecto a los portadores del alelo protector. En cuanto a ankrd55, un gen de funci\u00f3n totalmente desconocida, se ha llevado a cabo una caracterizaci\u00f3n de las diferentes variantes de transcripci\u00f3n en c\u00e9lulas del sistema inmune  y en una l\u00ednea celular de neuronas. Se ha demostrado que la variante 005 es la isoforma m\u00e1s importante en el sistema inmune, y que esta isoforma muestra una expresi\u00f3n diferencial en pacientes y controles. Adem\u00e1s, el principal snp en la regi\u00f3n, rs6859219, se asocia con los niveles de expresi\u00f3n de tres variantes, 001, 005 y 007, en c\u00e9lulas inmunes.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Identification and functional analysis of genetic risk variants for multiple sclerosis<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Identification and functional analysis of genetic risk variants for multiple sclerosis <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Aitzkoa Lopez De Lapuente Portilla <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Pa\u00eds vasco\/euskal herriko unibertsitatea<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 17\/12\/2014<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li> Vandenbroeck<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Carlos Matute almau <\/li>\n<li>laura Leyva fernandez (vocal)<\/li>\n<li>Ana Mar\u00eda Aransay ba\u00f1ares (vocal)<\/li>\n<li>fuencisla Matesanz del barrio (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Aitzkoa Lopez De Lapuente Portilla Mediante una estrategia de genes candidatos, se han realizado varios estudios de [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center 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