{"id":67649,"date":"2018-03-09T22:56:07","date_gmt":"2018-03-09T22:56:07","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/implicaciones-del-gen-chrna7-en-el-trastorno-bipolar-y-sus-endofenotipos-cognitivos\/"},"modified":"2018-03-09T22:56:07","modified_gmt":"2018-03-09T22:56:07","slug":"implicaciones-del-gen-chrna7-en-el-trastorno-bipolar-y-sus-endofenotipos-cognitivos","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/implicaciones-del-gen-chrna7-en-el-trastorno-bipolar-y-sus-endofenotipos-cognitivos\/","title":{"rendered":"Implicaciones del gen chrna7 en el trastorno bipolar y sus endofenotipos cognitivos."},"content":{"rendered":"<h2>Tesis doctoral de <strong> In\u00e9s Esperanza Anc\u00edn Mart\u00ednez-zaporta <\/strong><\/h2>\n<p>Null objetivos evaluar la posible implicaci\u00f3n del gen del receptor colin\u00e9rgico alfa 7 nicot\u00ednico (chrna7) como gen de susceptibilidad para trastorno bipolar. Valorar la asociaci\u00f3n de este gen con perfiles endofenot\u00edpicos de dicha patolog\u00eda como son los d\u00e9 ficit en funci\u00f3n ejecutiva y atenci\u00f3n sostenida.   material y m\u00e9todos se realiz\u00f3 un estudio de asociaci\u00f3n caso-control. Para el an\u00e1lisis gen\u00e9tico se seleccion\u00f3 una muestra de 784 controles y 238 enfermos con trastorno bipolar. De esta poblaci\u00f3n se ob tuvo un subgrupo de 105 sujetos control y 145 pacientes bipolares eut\u00edmicos para un posterior estudio neurocognitivo y de asociaci\u00f3n gen\u00e9tica. Las pruebas neurocognitivas seleccionadas fueron el wisconsin card sorting test (wcst) para evaluaci\u00f3n de l a funci\u00f3n ejecutiva y el continuous performance test en su versi\u00f3n de est\u00edmulos degradados (cpt-ds) para la atenci\u00f3n sostenida. En el an\u00e1lisis gen\u00e9tico se determinaron la variante -86 c\/t localizada en la regi\u00f3n promotora del gen chrna7 y los polimor fismos rs883473, rs6494223 y rs904952 localizados en intrones de la regi\u00f3n no duplicada del gen. Los pacientes se encontraban en fase de eutimia (puntuaciones menores de 7 en la escala de depresi\u00f3n de hamilton y de 6 en la escala de man\u00eda de young du rante al menos los tres meses previos al estudio).  resultados el gen  chrna7 es un gen de efecto menor que est\u00e1 asociado a la vulnerabilidad del trastorno bipolar. El polimorfismo del promotor aumenta el riesgo de padecer esta patolog\u00eda (or= 1,51; i c= 1,01 \u00c2\u00bf 2,25) mientras que la variante para rs6494223 parece actuar como factor de protecci\u00f3n frente a la misma (or= 0,7; ic= 0,51 \u00c2\u00bf 0,95 para la heterocigosis y or= 0,44; ic= 0,26 \u00c2\u00bf 0,74 para la doble variante). El an\u00e1lisis haplot\u00edpico de los snps  candidatos tambi\u00e9n evidenci\u00f3 la asociaci\u00f3n del gen con la enfermedad. Los pacientes con trastorno bipolar  en fase de eutimia presentan d\u00e9ficit en la funci\u00f3n ejecutiva y en la atenci\u00f3n sostenida. La existencia de estos d\u00e9ficit en la fase estable y a sintom\u00e1tica de la enfermedad favorece que puedan ser considerados endofenotipos de la enfermedad. El gen chrna7 se asoci\u00f3 tanto genot\u00edpica como haplot\u00edpicamente a perfiles neurocognitivos de pacientes y sujetos control.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Implicaciones del gen chrna7 en el trastorno bipolar y sus endofenotipos cognitivos.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Implicaciones del gen chrna7 en el trastorno bipolar y sus endofenotipos cognitivos. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 In\u00e9s Esperanza Anc\u00edn Mart\u00ednez-zaporta <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Complutense de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 27\/10\/2008<\/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 Barabash Bustelo<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Mar\u00eda ines L\u00f3pez-ibor alcocer <\/li>\n<li>  (vocal)<\/li>\n<li>  (vocal)<\/li>\n<li>  (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de In\u00e9s Esperanza Anc\u00edn Mart\u00ednez-zaporta Null objetivos evaluar la posible implicaci\u00f3n del gen del receptor colin\u00e9rgico alfa 7 [&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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