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Previous issue date: 2010-08-02 / Conselho Nacional de Desenvolvimento Cient?fico e Tecnol?gico / Preeclampsia is a multifactorial disease of unknown etiology that features with wide clinical symptoms, ranging from mild preeclampsia to severe forms, as eclampsia and HELLP syndrome. As a complex disease, preeclampsia is also
influenced by genetic and environmental factors. Aiming to identify preeclampsia susceptibility genes, we genotyped a total of 22 genetic markers (single nucleotides polymorphisms SNPs) distributed in six candidates genes (ACVR2A, FLT1,
ERAP1, ERAP2, LNPEP e CRHBP). By a case-control approach, the genotypic frequencies were compared between normotensive (control group) and preeclamptic women. The case s group was classified according to the disease clinical form in: preeclampsia, eclampsia and HELLP syndrome. As results we found the following genetic association: 1) ACVR2A and preeclampsia; 2) FLT1 and severe preeclampsia; 3) ERAP1 and eclampsia; 4) FLT1 and HELLP syndrome. When stratifying preeclampsia group according to symptoms severity (mild and
severe preeclampsia) or according to the time of onset (early and late preeclampsia), it was detected that early preeclampsia is strongly associated to risk preeclampsia, eclampsia and HELLP syndrome have different genetic bases, although FLT1 gene seems to be involved in preeclampsia and HELLP syndrome pathophisiology / A pr?-ecl?mpsia ? uma doen?a multifatorial de etiologia ainda desconhecida que apresenta um amplo espectro quanto ? gravidade dos sintomas, podendo variar da forma mais branda (pr?-ecl?mpsia leve) ?s formas mais severas (ecl?mpsia e s?ndrome HELLP). Atualmente sabe-se que a pr?-ecl?mpsia ?
influenciada tanto por fatores ambientais quanto por fatores gen?ticos. Com o prop?sito de identificar genes de suscetibilidade ? doen?a, genotipamos um total de
22 marcadores gen?ticos distribu?dos em seis genes candidatos (ACVR2A, FLT1, ERAP1, ERAP2, LNPEP e CRHBP). Utilizando uma abordagem do tipo casocontrole, comparamos as freq??ncias genot?picas entre mulheres normotensas (controles) e mulheres com pr?-ecl?mpsia (casos). O grupo dos casos foi dividido
de acordo a forma cl?nica da doen?a em: pr?-ecl?mpsia, ecl?mpsia e s?ndrome HELLP. Como resultado p?de-se constatar as seguintes associa??es gen?ticas: 1) ACVR2A e pr?-ecl?mpsia; 2) FLT1 e pr?-ecl?mpsia grave; 3) ERAP1 e ecl?mpsia; 4) FLT1 e s?ndrome HELLP. Ao estratificar o grupo da pr?-ecl?mpsia de acordo com a gravidade dos sintomas (pr?-ecl?mpsia leve ou grave) ou de acordo com o tempo de in?cio dos sintomas (pr?-ecl?mpsia precoce ou tardia), comprovamos que o grupo pr?-ecl?mpsia precoce est? fortemente associado aos gen?tipos de risco. Nosso trabalho sugere que a pr?-ecl?mpsia, ecl?mpsia e s?ndrome HELLP
possuem bases gen?ticas distintas, embora o gene FLT1 pare?a estar envolvido na fisiopatologia da pr?-ecl?mpsia e s?ndrome HELLP
| Identifer | oai:union.ndltd.org:IBICT/oai:repositorio.ufrn.br:123456789/12565 |
| Date | 02 August 2010 |
| Creators | Ferreira, Leonardo Capistrano |
| Contributors | CPF:15603016434, http://buscatextual.cnpq.br/buscatextual/visualizacv.do?id=K4785584A3&dataRevisao=null, Maranh?o, T?cia Maria de Oliveira, CPF:13049127449, http://lattes.cnpq.br/7869140767244263, Carvalho, Maria Goretti Freire de, CPF:05601592420, http://lattes.cnpq.br/8934375314306198, Jer?nimo, Selma Maria Bezerra |
| Publisher | Universidade Federal do Rio Grande do Norte, Programa de P?s-Gradua??o em Bioqu?mica, UFRN, BR, Bioqu?mica; Biologia Molecular |
| Source Sets | IBICT Brazilian ETDs |
| Language | Portuguese |
| Detected Language | Portuguese |
| Type | info:eu-repo/semantics/publishedVersion, info:eu-repo/semantics/masterThesis |
| Format | application/pdf |
| Source | reponame:Repositório Institucional da UFRN, instname:Universidade Federal do Rio Grande do Norte, instacron:UFRN |
| Rights | info:eu-repo/semantics/openAccess |
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