Endothelial nitric oxide synthase (eNOS) (Glu298Asp) and urotensin II (UTS2S89N) gene polymorphisms in preeclampsia: prediction and correlation with severity in Egyptian females

Abstract

Women having mutation in any of the two studied genes are at risk to develop mild preeclampsia, and those having mutations in both genes are at risk to develop severe preeclampsia, while the females with normal pregnancy are protected by the higher percentage of expression of the normal (wild allelles) of both genes.

Polymorphisms of the methylenetetrahydrofolate reductase gene (C677T and A1298C) in the placenta of pregnancies complicated with preeclampsia

“…Several single-nucleotide polymorphisms (SNPs) have been studied in pregnancies complicated with PE [5][6][7]. The methylenetetrahydrofolate reductase (MTHFR) enzyme is critical for the metabolism of homocysteine (HCY), catalyzing the NADPHlinked reduction of 5,10-MTHF to 5-MTHF, and subsequently the vitamin B12-dependent methylation of HCY to methionine [8].…”

Associations between nitric oxide synthase 3 gene polymorphisms and preeclampsia risk: a meta-analysis

“…Not excluding studies with HWE-violation may result in the overestimation of the statistical significance of some postulated gene-disease associations, and it also seemed to modestly increase the between-study heterogeneity in some instances, thus distorting the findings 34 . In the current meta-analysis, seven studies for G894T 14 17 28 29 30 31 35 , two studies for T-786C 32 36 , and four studies for VNTR 4b/a 14 18 21 37 deviated from HWE. After adding these studies into the pooled analyses, the overall risk and between-study heterogeneity were not significantly changed except for a significant reduction of heterogeneity for G894T (from 52.5% to 38.8%).…”

“…1 ). Of the publications that were considered to be possibly relevant for the analysis, the following were excluded: two duplicate publications 24 25 , one study 26 that included controls with hypertension in pregnancy, one study with unreliable data 27 , three studies 28 29 30 with controls not in the Hardy-Weinberg equilibrium (HWE), and one study with insufficient data to calculate HWE 31 . Finally, 41case-control studies, including 5,211 cases and 8,779 controls, were used to evaluate the associations of NOS3 polymorphisms (G894T, T-786C, and VNTR 4b/a) with the risk for preeclampsia ( Table 1 ).…”

“…This variation was found to be susceptible to cleavage by proteases in endothelial cells and vascular tissue, thus leading to reduced vascular NO synthesis 41 . G894T has been suggested to reduce eNOS mRNA expression, its activity and NO levels among patients with preeclampsia compared with healthy controls 29 31 . The T-786C SNP is located in the 5′-flanking region of promoter 9 .…”

Endothelial Nitric Oxide Synthase and Neurodevelopmental Disorders

“…Whereas chronic hypoxia selectively augments the pregnancy-associated upregulation of eNOS gene expression and endothelium-dependent relaxation of the uterine artery [23], women with eNOS gene mutations were found to be at risk for developing preeclampsia in a study of Egyptian families [24]. However, other studies do not support a major role for eNOS gene variants in preeclampsia [25,26].…”