Pharmacogenetics and nutrigenetics in crohn’s disease

Detalhes bibliográficos
Autor(a) principal: Ferreira, Paula Sousa Alves, 1983-
Data de Publicação: 2014
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10451/18263
Resumo: Tese de doutoramento, Biologia (Genética), Universidade de Lisboa, Faculdade de Ciências, 2015
id RCAP_7e51358f10cce437f49196e71cb8fda2
oai_identifier_str oai:repositorio.ul.pt:10451/18263
network_acronym_str RCAP
network_name_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository_id_str 7160
spelling Pharmacogenetics and nutrigenetics in crohn’s diseaseFarmacogenéticaNutrigenómicaDoença de CrohnEnteropatias inflamatóriasTeses de doutoramento - 2015Tese de doutoramento, Biologia (Genética), Universidade de Lisboa, Faculdade de Ciências, 2015Crohn’s disease, a pathology of unknown origin, is characterized by a chronic inflammatory response that involves the entire gastrointestinal tract, a high heterogeneity in phenotype and a strong genetic component. It’s a disease with a greater incidence in industrialized countries, what suggests the importance of environmental factors in its pathogenesis, where diet patterns have been pointed out as possible cause. The treatment of this disease is very complex due to the severity of the clinical parameters and the variety of response to the existing therapies. This emphasizes the importance of the conjugation with genetic factors such as polymorphisms in key genes presented in inflammatory pathways, apoptosis, autophagy and metabolism and drug transportation. The main existing challenge results from the difficulty in predicting the disease development along the years, which turns the choice of appropriate therapeutic and control of symptoms problematic. With the purpose of answering to these questions, we have developed several studies, here compiled in this dissertation, that have the main goal of identifying clinical and genetic predictors of response to the normally used therapies that allowed the physicians to stratified their patients in order to apply a more personalized therapeutic based on individuals genetic profile. As main results emerges the identification of genetic polymorphisms in cytokine genes such as TNFα, LTα, IL1 e IL6 as associated with disease aggressiveness and development. The high consumption of glicids, lipids, saturated, monounsaturated and polyunsaturated fats appears as risk factors to greater disease aggressiveness. Clinical predictors such as patient’s age, surgery and perianal involvement and genetic predictors like Casp9 and MDR1 gene polymorphisms were associated with response to therapy. The future for the treatment of Crohn’s disease resides in the investment in pharmacogenetics and nutrigenetics studies, such as the studies described here, since they emerge as a benefit to the routinely clinical practice that contributes to a therapeutic and nutritional therapy personalized to each patient and, therefore, a better quality of life.Fundação para a Ciência e a Tecnologia (FCT), SFRH/BD/64172/2009; Grupo de Estudos da Doença Inflamatória Intestinal (2009-2012)Brito, Rui Miguel Duque de, 1969-Coelho, Maria Manuela, 1954-Repositório da Universidade de LisboaFerreira, Paula Sousa Alves, 1983-2015-06-12T17:43:45Z201520142015-01-01T00:00:00Zdoctoral thesisinfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/10451/18263TID:101325053enginfo: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:RCAAP2024-11-20T17:22:56Zoai:repositorio.ul.pt:10451/18263Portal AgregadorONGhttps://www.rcaap.pt/oai/openairemluisa.alvim@gmail.comopendoar:71602024-11-20T17:22:56Repositório 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 Pharmacogenetics and nutrigenetics in crohn’s disease
title Pharmacogenetics and nutrigenetics in crohn’s disease
spellingShingle Pharmacogenetics and nutrigenetics in crohn’s disease
Ferreira, Paula Sousa Alves, 1983-
Farmacogenética
Nutrigenómica
Doença de Crohn
Enteropatias inflamatórias
Teses de doutoramento - 2015
title_short Pharmacogenetics and nutrigenetics in crohn’s disease
title_full Pharmacogenetics and nutrigenetics in crohn’s disease
title_fullStr Pharmacogenetics and nutrigenetics in crohn’s disease
title_full_unstemmed Pharmacogenetics and nutrigenetics in crohn’s disease
title_sort Pharmacogenetics and nutrigenetics in crohn’s disease
author Ferreira, Paula Sousa Alves, 1983-
author_facet Ferreira, Paula Sousa Alves, 1983-
author_role author
dc.contributor.none.fl_str_mv Brito, Rui Miguel Duque de, 1969-
Coelho, Maria Manuela, 1954-
Repositório da Universidade de Lisboa
dc.contributor.author.fl_str_mv Ferreira, Paula Sousa Alves, 1983-
dc.subject.por.fl_str_mv Farmacogenética
Nutrigenómica
Doença de Crohn
Enteropatias inflamatórias
Teses de doutoramento - 2015
topic Farmacogenética
Nutrigenómica
Doença de Crohn
Enteropatias inflamatórias
Teses de doutoramento - 2015
description Tese de doutoramento, Biologia (Genética), Universidade de Lisboa, Faculdade de Ciências, 2015
publishDate 2014
dc.date.none.fl_str_mv 2014
2015-06-12T17:43:45Z
2015
2015-01-01T00:00:00Z
dc.type.driver.fl_str_mv doctoral thesis
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10451/18263
TID:101325053
url http://hdl.handle.net/10451/18263
identifier_str_mv TID:101325053
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.format.none.fl_str_mv application/pdf
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 mluisa.alvim@gmail.com
_version_ 1817548849384783872

Registros relacionados