The significance of -786T > C polymorphism of endothelial NO synthase (eNOS) gene in severe preeclampsia

J Matern Fetal Neonatal Med. 2011 Mar;24(3):432-6. doi: 10.3109/14767058.2010.511329. Epub 2010 Sep 7.

Abstract

Objective: Preeclampsia (PE) is believed to be induced by endothelial cell dysfunction in placenta. Highly polymorphic endothelial nitric oxide synthase (eNOS) activity belongs to the factors significantly influencing vaso-motor tone in placenta and PE susceptibility. The aim of this study was to evaluate prevalence of -786T/C polymorphism of eNOS gene in the groups of women with mild and severe PE.

Study design: The study was performed in the group of 218 preeclamptic (including 136 with severe PE) and of 400 normotensive healthy women delivered normally after a healthy gestation. The eNOS -786T/C polymorphism was determined using PCR/RFLP assay. Additionally, detailed correlation between eNOS genotypes and clinical/laboratory data in the PE group has been analyzed.

Results: The higher frequency of mutated homozygous CC genotypes (17.4% vs. 11.5% in controls, OR 1.62, n.s.) and of C alleles (allelic frequency 44.1 vs. 36.6%; OR 1.36, p = 0.012) in the group of PE has been determined. Furthermore, in the group of severe PE the overrepresentation of mutated CC genotypes (23.5% vs. 11.5%, OR 2.37, p = 0.0014) and mutated C alleles (47.8 vs. 36.6%, OR 1.58, p = 0.0016) has been found.

Conclusions: The presence of mutated homozygous CC genotype and C allele of -786T/C polymorphism of eNOS gene influences the higher susceptibility to develop severe PE development.

MeSH terms

  • Adult
  • Case-Control Studies
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Nitric Oxide Synthase Type III / genetics*
  • Polymorphism, Single Nucleotide* / physiology
  • Pre-Eclampsia / genetics*
  • Pregnancy
  • Promoter Regions, Genetic / genetics
  • Severity of Illness Index
  • Young Adult

Substances

  • NOS3 protein, human
  • Nitric Oxide Synthase Type III