Comprehensive analysis of MYOC gene in primary open-angle glaucoma

Detalhes bibliográficos
Autor(a) principal: Ferreira, Ana Filipa Bento
Data de Publicação: 2014
Tipo de documento: Dissertação
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10316/29818
Resumo: Dissertação de mestrado em Investigação Biomédica, apresentada à Faculdade de Medicina da Universidade de Coimbra
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spelling Comprehensive analysis of MYOC gene in primary open-angle glaucomaMutação, genéticaGlaucoma de ângulo abertoMiocilinaDissertação de mestrado em Investigação Biomédica, apresentada à Faculdade de Medicina da Universidade de CoimbraGlaucoma is an optic neuropathy characterized by irreversible optic nerve degeneration, progressive visual field defects, and cupping of glaucomatous optic disc. This condition is a leading cause of blindness worldwide affecting ~67 million people with 6.8 million bilaterally blind. Primary Open-Angle Glaucoma (POAG) is the most common form of Glaucoma accounting for 70% of all cases in Caucasians. This type of Glaucoma comprises three subtypes: POAG with adult age of onset, Juvenile Open-Angle Glaucoma (JOAG; onset <35 years old) and Normal Tension Glaucoma (NTG; normal intraocular pressure). MYOC gene was the first gene identified as POAG causative and ever since approximately 99 sequence variations were considered Glaucoma causing disease mutations. The purpose of this study was to identify sequence variations in MYOC gene that may be responsible for the phenotype in a group of Portuguese POAG patients. In order to fulfil the objective of this work, 104 POAG patients were analyzed by a PCR-sequencing method. Additionally, 54 controls subjects were studied by a SNaPshot approach, followed by statistical analysis with GraphPad Prism v.6. Statistically significant differences were assumed when p < 0.05. Finally, in silico analyses were performed to investigate the evolutionary conservation, functional effects and transcription factor search in the most relevant variants identified. The sequencing results of the 3 coding exons and proximal splicing junctions of MYOC gene in 104 POAG patients allowed identifying 27 variants. From these, two variants are likely Glaucoma causing disease mutations and were identified in two NTG patients. A statistically significant association was found among females suggesting a possible protective effect (OR=3.29). Further studies are required to clarify the possible involvement of the identified variants in POAG etiology2014info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/masterThesishttp://hdl.handle.net/10316/29818http://hdl.handle.net/10316/29818TID:201628759engFerreira, Ana Filipa Bentoinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2022-01-20T17:48:43Zoai:estudogeral.uc.pt:10316/29818Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:45:00.918181Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Comprehensive analysis of MYOC gene in primary open-angle glaucoma
title Comprehensive analysis of MYOC gene in primary open-angle glaucoma
spellingShingle Comprehensive analysis of MYOC gene in primary open-angle glaucoma
Ferreira, Ana Filipa Bento
Mutação, genética
Glaucoma de ângulo aberto
Miocilina
title_short Comprehensive analysis of MYOC gene in primary open-angle glaucoma
title_full Comprehensive analysis of MYOC gene in primary open-angle glaucoma
title_fullStr Comprehensive analysis of MYOC gene in primary open-angle glaucoma
title_full_unstemmed Comprehensive analysis of MYOC gene in primary open-angle glaucoma
title_sort Comprehensive analysis of MYOC gene in primary open-angle glaucoma
author Ferreira, Ana Filipa Bento
author_facet Ferreira, Ana Filipa Bento
author_role author
dc.contributor.author.fl_str_mv Ferreira, Ana Filipa Bento
dc.subject.por.fl_str_mv Mutação, genética
Glaucoma de ângulo aberto
Miocilina
topic Mutação, genética
Glaucoma de ângulo aberto
Miocilina
description Dissertação de mestrado em Investigação Biomédica, apresentada à Faculdade de Medicina da Universidade de Coimbra
publishDate 2014
dc.date.none.fl_str_mv 2014
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/masterThesis
format masterThesis
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10316/29818
http://hdl.handle.net/10316/29818
TID:201628759
url http://hdl.handle.net/10316/29818
identifier_str_mv TID:201628759
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
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