%0 Journal Article
%T Genetic Aspects of Preeclampsia and the HELLP Syndrome
%A Kjell Haram
%A Jan Helge Mortensen
%A B¨¢lint Nagy
%J Journal of Pregnancy
%D 2014
%I Hindawi Publishing Corporation
%R 10.1155/2014/910751
%X Both preeclampsia and the HELLP syndrome have their origin in the placenta. The aim of this study is to review genetic factors involved in development of preeclampsia and the HELLP syndrome using literature search in PubMed. A familial cohort links chromosomes 2q, 5q, and 13q to preeclampsia. The chromosome 12q is coupled with the HELLP syndrome. The STOX1 gene, the ERAP1 and 2 genes, the syncytin envelope gene, and the £¿670 Fas receptor polymorphisms are involved in the development of preeclampsia. The ACVR2A gene on chromosome 2q22 is also implicated. The toll-like receptor-4 (TLR-4) and factor V Leiden mutation participate both in development of preeclampsia and the HELLP syndrome. Carriers of the TT and the CC genotype of the MTHFR C677T polymorphism seem to have an increased risk of the HELLP syndrome. The placental levels of VEGF mRNA are reduced both in women with preeclampsia and in women with the HELLP syndrome. The BclI polymorphism is engaged in development of the HELLP syndrome but not in development of severe preeclampsia. The ACE I/D polymorphism affects uteroplacental and umbilical artery blood flows in women with preeclampsia. In women with preeclampsia and the HELLP syndrome several genes in the placenta are deregulated. Preeclampsia and the HELLP syndrome are multiplex genetic diseases. 1. Introduction Preeclampsia is a multisystemic disorder in pregnancy with de novo hypertension and proteinuria occurring after the 20th gestational week and is characterised by hypertension and proteinuria, with or without oedema. The condition is associated with a reduced plasma volume, hemoconcentration, and increased vascular resistance. One of the chief targets is the kidneys and the clinical picture is dominated by hypertension and proteinuria [1¨C3]. The clinical findings of preeclampsia can manifest as either a maternal syndrome (hypertension and proteinuria with or without other multisystem abnormalities) or fetal syndrome (fetal growth restriction, reduced amniotic fluid, and abnormal oxygenation) [3]. The condition may cause serious maternal and fetal complications [3]. Women with preeclampsia may develop the HELLP syndrome (haemolysis, elevated liver enzymes, and low platelet), which occurs in 0.5% to 0.9% of all pregnancies and in 10% to 20% of women with severe preeclampsia. The syndrome may be complete or incomplete. The majority of women with the HELLP syndrome have hypertension and proteinuria but the condition may also occur without these [4]. Typical clinical symptoms of the HELLP syndrome are right upper abdominal quadrant or
%U http://www.hindawi.com/journals/jp/2014/910751/