{"id":101971,"date":"2018-03-11T10:23:57","date_gmt":"2018-03-11T10:23:57","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-de-asociacion-de-genoma-completo-en-enfermedad-de-alzheimer\/"},"modified":"2018-03-11T10:23:57","modified_gmt":"2018-03-11T10:23:57","slug":"estudio-de-asociacion-de-genoma-completo-en-enfermedad-de-alzheimer","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/bioquimica-molecular\/estudio-de-asociacion-de-genoma-completo-en-enfermedad-de-alzheimer\/","title":{"rendered":"Estudio de asociaci\u00f3n de genoma completo en enfermedad de alzheimer"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Liher Imaz Goienetxea <\/strong><\/h2>\n<p>Introducci\u00f3n: la enfermedad de alzheimer (ea) es el trastorno neurodegenerativo m\u00e1s com\u00fan en el mundo y tiene unos efectos devastadores en las personas que la padecen. A pesar de los numerosos estudios realizados, poco se sabe de la gen\u00e9tica de la forma de origen tard\u00edo de esta enfermedad. La identificaci\u00f3n de nuevos genes asociados a esta patolog\u00eda es necesaria para que se puedan desarrollar estrategias de prevenci\u00f3n y tratamientos eficaces. Objetivo: identificar regiones cromos\u00f3micas o genes implicados en el deterioro neuronal y otros factores fisiol\u00f3gicos que desencadenan la ea de origen tard\u00edo, utilizando herramientas de genotipado de alto rendimiento que permiten analizar polimorfismos a lo largo de todo el genoma. Metodolog\u00eda: este estudio de asociaci\u00f3n de genoma completo se realiz\u00f3 en dos fases: en la primera se genotiparon 312.000 polimorfismos de nucle\u00f3tido \u00fanico distribuidos a lo largo de todo el genoma en muestras de 386 individuos (193 casos y 193 controles), y en la segunda, se genotiparon los 743 marcadores que presentaron una mayor asociaci\u00f3n estad\u00edstica con la enfermedad en la primera fase en otros 480 individuos. Adem\u00e1s, tambi\u00e9n se genotip\u00f3 a todos los inviduos el gen apoe, el \u00fanico gen asociado inequ\u00edvocamente con la ea de origen tard\u00edo hasta la fecha. Resultados: adem\u00e1s de confirmar la asociaci\u00f3n del alelo \u00c2\u00bf4 del gen apoe (odds ratio = 2,9) con la enfermedad, el an\u00e1lisis conjunto de los 810 individuos (407 casos y 403 controles) que pasaron los criterios de calidad sugirieron la asociaci\u00f3n de varias regiones cromos\u00f3micas, entre la que destaca una regi\u00f3n del cromosoma 4. Tambi\u00e9n se identificaron posibles rutas metab\u00f3licas que podr\u00edan estar implicadas en el desarrollo de la ea de origen tard\u00edo.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio de asociaci\u00f3n de genoma completo en enfermedad de alzheimer<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio de asociaci\u00f3n de genoma completo en enfermedad de alzheimer <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Liher Imaz Goienetxea <\/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 23\/06\/2010<\/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>Ana Mar\u00eda Aransay Ba\u00f1ares<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: isidro Ferrer abizanda <\/li>\n<li>barbara Arias samperiz (vocal)<\/li>\n<li>koen Vanden broeck (vocal)<\/li>\n<li>david Otaegui bichot (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Liher Imaz Goienetxea Introducci\u00f3n: la enfermedad de alzheimer (ea) es el trastorno neurodegenerativo m\u00e1s com\u00fan en el [&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 center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"categories":[115,2820,12909],"tags":[191979,207042,130436,13845,207043,207041],"class_list":["post-101971","post","type-post","status-publish","format-standard","hentry","category-bioquimica-molecular","category-genetica-humana","category-pais-vasco-euskal-herriko-unibertsitatea","tag-ana-maria-aransay-banares","tag-barbara-arias-samperiz","tag-david-otaegui-bichot","tag-isidro-ferrer-abizanda","tag-koen-vanden-broeck","tag-liher-imaz-goienetxea"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/101971","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/comments?post=101971"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/101971\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=101971"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=101971"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=101971"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}