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dc.contributor.advisorBrión Martínez, María José
dc.contributor.advisorCarracedo Álvarez, Ángel María
dc.contributor.authorGago Díaz, Marina
dc.date.accessioned2017-03-31T07:54:28Z
dc.date.available2017-03-31T07:54:28Z
dc.date.issued2017
dc.identifier.urihttp://hdl.handle.net/10347/15260
dc.description.abstractThe present doctoral thesis deals with the still partially unraveled genetic component of thoracic aortic aneurysms and dissections, a frequently asymptomatic but potentially lethal condition and major cause of sudden death. Our main objective was to contribute to further elucidate the genetics behind it, from both Mendelian and complex perspectives. We analyzed single and familial, forensic and clinical mendelian cases applying either a candidate-gene or whole exome massive parallel sequencing approach, respectively. We were able to solve approximately 23% of the forensic single cases and identified two strong candidate mutations in TGFB2 and PRKG1 genes in the two non-syndromic familial cases analyzed. For the analysis of complex cases we chose a population-based approach. We selected bicuspid aortic valve patients with and without concomitant thoracic aortic dilation and faced them against general population controls. We were not able to identify any consistently significant association, though a promising one arose involving HMCN2 and calcium metabolism that should be considered in future studies. The direct clinical consequences some of these results had supported molecular diagnosis, reliable genotype-phenotype correlations, and risk stratification as important tools for clinical management of these patients and family members at risk, as well as the need of research to continue.
dc.language.isoeng
dc.rightsEsta obra atópase baixo unha licenza internacional Creative Commons BY-NC-ND 4.0. Calquera forma de reprodución, distribución, comunicación pública ou transformación desta obra non incluída na licenza Creative Commons BY-NC-ND 4.0 só pode ser realizada coa autorización expresa dos titulares, salvo excepción prevista pola lei. Pode acceder Vde. ao texto completo da licenza nesta ligazón: https://creativecommons.org/licenses/by-nc-nd/4.0/deed.gl
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/4.0/deed.gl
dc.subjectExome-wide association study
dc.subjectGenetics
dc.subjectMassive parallel sequencing
dc.subjectThoracic aortic aneurysms and dissections
dc.subject.classificationMaterias::Investigación::24 Ciencias de la vida::2410 Biología humana::241007 Genética humana
dc.subject.classificationMaterias::Investigación::32 Ciencias médicas::3207 Patología::320704 Patología cardiovascular
dc.titleThoracic aortic aneurysms and dissections: genetic analysis of Mendelian and complex cases
dc.typeinfo:eu-repo/semantics/doctoralThesis
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess
dc.contributor.affiliationUniversidade de Santiago de Compostela. Facultade de Medicina e Odontoloxía
dc.contributor.affiliationUniversidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría


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Esta obra atópase baixo unha licenza internacional Creative Commons BY-NC-ND 4.0. Calquera forma de reprodución, distribución, comunicación pública ou transformación desta obra non incluída na licenza Creative Commons BY-NC-ND 4.0 só pode ser realizada coa autorización expresa dos titulares, salvo excepción prevista pola lei. Pode acceder Vde. ao texto completo da licenza nesta ligazón: https://creativecommons.org/licenses/by-nc-nd/4.0/deed.gl
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 Esta obra atópase baixo unha licenza internacional Creative Commons BY-NC-ND 4.0. Calquera forma de reprodución, distribución, comunicación pública ou transformación desta obra non incluída na licenza Creative Commons BY-NC-ND 4.0 só pode ser realizada coa autorización expresa dos titulares, salvo excepción prevista pola lei. Pode acceder Vde. ao texto completo da licenza nesta ligazón: https://creativecommons.org/licenses/by-nc-nd/4.0/deed.gl





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