Título de la tesis:

Autor/es:

Muiños Gimeno, Margarita

Tipo de documento:

Tesis (Doctoral)

Universidad:

UPF

Departamento:

Ciències Experimentals i de la Salut

Idioma:

Anglès

Palabras clave:

complex traits, polygenic disorders, genome variation, microRNA, regulatory element, candidate gene, NTRK3, SNP, genetic variation within species, anxiety disorder, panic disorder, obsessive-compulsive disorder, poly-miRTS, association studies, re-sequencing, rare variant, common variant, luciferase assay, PCR, transcriptome analysis, isoform, trets complexes, desordres poligènics, variació genòmica, microRNA, element regulador, gen candidat, NTRK3, SNP, variació genètica intraespecífica, trastorn d’ansietat, trastorn de pànic, trastorn obsessiu-compulsiu, poly-miRTS, estudis d’associació, reseqüenciar, variant rara, variant comuna, assaig de luciferasa, PCR, anàlisi de transcriptoma, isoforma

Fecha de la defensa:

18-12-2009

Notas:

Tesis dirigida por: Espinosa Parrilla, Yolanda

Resumen: We have investigated genetic variation in microRNA-mediated regulation as a susceptibility factor for anxiety disorders following two different approaches. We first studied two isoforms of the candidate gene NTRK3 by re-sequencing its different 3’UTRs in patients with Panic (PD) and Obsessive Compulsive disorders (OCD) as well as controls. Two rare variants that altered microRNA-mediated regulation were identified in PD. Conversely, association of a common SNP with OCD hoarding subtype was found. Moreover, we have also studied a possible involvement of microRNAs in anxiety disorders. Consequen...

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