Association between endoglin/transforming growth factor beta receptors 1, 2 gene polymorphisms and the level of soluble endoglin with preeclampsia in Egyptian women.

Introduction: Preeclampsia (PE) is a pregnancy-specific hypertensive disease whose etiopathogenesis remains unclear.

Objectives: This study was designed to assess association between PE and 3 single nucleotide polymorphisms (SNPs): ENG(G/A) rs11792480, TGFβR1(A/C) rs10739778 and TGFβR2(G/A) rs6550005, beside circulating soluble endoglin (sENG), oxidative stress biomarkers and nitric oxide (NO) in Egyptian women.

Methods: The study included 75 preeclamptic women stratified into 4 clinical subgroups and 50 normotensive pregnant women. Genotyping was performed by real time polymerase chain reaction-Taqman allelic discrimination.

Results: Preeclamptic women showed significantly increased sENG and malondialdehyde (MDA), decreased total antioxidant capacity (TAC), endothelial nitric oxide synthase (eNOS) and NO, without change in transforming growth factor beta 1 (TGFβ1) versus controls. Moreover, sENG was significantly higher in severe and early than mild and late PE. Higher MDA and lower TAC and NO were observed in severe than mild PE. ENG(G/A) and TGFβR2(G/A) showed no association with PE. However, CC genotype of TGFβR1(A/C) was more frequent in controls than either PE, early-onset or severe revealing a reduced PE risk in CC genotype versus AA or AA + AC. Importantly, patients carrying AA genotype had higher SBP and MDA with lower TAC, gestational age at delivery (GA) and birth weight than those carrying CC genotype.

Conclusions: Excessive sENG release with decreased eNOS/NO may be involved in PE pathogenesis. Women who carry C allele or CC genotype of TGFβR1(A/C) may be less prone to develop PE.