Determinantes genéticos e ambientais das doenças hipertensivas da gravidez
The development of complex diseases such as preeclampsia are determined by both environmental and genetic factors, but there is also interaction among these factors. Preeclampsia is a pregnancy-specific disorder characterized by de-novo hypertension and proteinuria after 20th week of gestation. T...
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Formato: | doctoralThesis |
Idioma: | por |
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Universidade Federal do Rio Grande do Norte
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Acesso em linha: | https://repositorio.ufrn.br/jspui/handle/123456789/19554 |
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Resumo: | The development of complex diseases such as preeclampsia are determined by
both environmental and genetic factors, but there is also interaction among these
factors. Preeclampsia is a pregnancy-specific disorder characterized by de-novo
hypertension and proteinuria after 20th week of gestation. There is a broad spectrum
of clinical presentations related to hypertensive disorders of pregnancy (HDP) that
can range from mild preeclampsia to eclampsia (seizures) or HELLP syndrome
(Hemolysis, Elevation of Liver enzymes, Low Platelets). Those clinical outcomes
might be linked to different pathological mechanisms. Our work aims to identify
factors (i.e. genes and environmental) associated with the HDP’s clinical spectrum.
Using a case-control approach, we selected a total of 1498 pregnant women for
epidemiological and genetic studies, encompassing 755 normotensive (control); 518
preeclampsia; 84 eclampsia; and 141 HELLP. Women were genotyped for 18 SNPs
across 5 candidate genes (FLT1, ACVR2A, ERAP1, ERAP2 and LNPEP). For the
environmental factors, we found maternal age, parity status and pre-gestational
body mass index as important risk factors associated with disease. Genes were
associated in a phenotype-specific manner: ACVR2A with early preeclampsia
(rs1424954, p=0.002); FLT1 with HELLP syndrome (rs9513095, p=0.003); and
ERAP1 with eclampsia (rs30187, p=0.03). Our results suggest that different genetic
mechanisms along with specific environmental factors might determine the clinical
spectrum of HDP. In addition, phenotype refinement seems to be an essential step
in the search for complex disease genes |
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