Genes candidatos de suscetibilidade a pré-eclampsia: estudo de associação

Detalhes bibliográficos
Ano de defesa: 2010
Autor(a) principal: Ferreira, Leonardo Capistrano
Orientador(a): Jerônimo, Selma Maria Bezerra
Banca de defesa: Não Informado pela instituição
Tipo de documento: Dissertação
Tipo de acesso: Acesso aberto
Idioma: por
Instituição de defesa: Universidade Federal do Rio Grande do Norte
Programa de Pós-Graduação: Programa de Pós-Graduação em Bioquímica
Departamento: Bioquímica; Biologia Molecular
País: BR
Palavras-chave em Português:
SNP
Área do conhecimento CNPq:
Link de acesso: https://repositorio.ufrn.br/jspui/handle/123456789/12565
Resumo: 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