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1.
J Hum Genet ; 50(8): 415-419, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-16059745

RESUMO

Attempts to define a pre-eclampsia susceptibility profile have been hampered by the wide clinical spectrum of the condition and the complex genetics underlying it. Genes that modulate blood pressure, fluid homeostasis and placental vascular development have been considered plausible candidates. Among these are the angiotensinogen (AGT) gene variant Met235Threo, which has been associated with pre-eclampsia and the endothelial nitric oxide synthase (eNOS) polymorphism Glu298Asp, which has been associated with both pre-eclampsia and abruptio placentae, a condition that often co-exists with pre-eclampsia. The aim of this study was to investigate a potential association between these gene variants and pre-eclampsia with and without abruptio placentae in a South African patient group. Fifty primigravidas with early onset, severe pre-eclampsia, 50 women presenting primarily with abruptio placentae (whether associated with pre-eclampsia or not) and a control panel of 50 healthy pregnant women constituted the study groups. The Met235Threo and Glu298Asp variants were characterised by polymerase chain reaction and restriction enzyme analysis. No association was demonstrated between the M235T variant of the AGT gene and pre-eclampsia or abruptio placentae. In contrast, the combined frequency of the eNOS variant genotypes (GT and TT) was significantly higher in the abruptio placentae group (49%) than the control group (21%) (p=0.006). Furthermore, in the pre-eclampsia patients who subsequently developed abruptio placentae, the eNOS GT genotype emerged as a major risk factor for the development of abruptio placentae (p<0.0001). These data suggest that the presence of a Glu298Asp eNOS variant may pre-dispose a pre-eclamptic woman to develop abruptio placentae or that it is a marker for predisposition.


Assuntos
Descolamento Prematuro da Placenta/genética , Variação Genética , Óxido Nítrico Sintase/genética , Pré-Eclâmpsia/genética , Descolamento Prematuro da Placenta/enzimologia , Adolescente , Adulto , Ácido Aspártico/genética , Estudos de Casos e Controles , Feminino , Frequência do Gene , Ácido Glutâmico/genética , Humanos , Óxido Nítrico Sintase Tipo III , Reação em Cadeia da Polimerase , Polimorfismo Genético , Gravidez , Mapeamento por Restrição , Fatores de Risco , África do Sul/epidemiologia
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