Genotype of the CYBA promoter −930A/G, polymorphism C677T of the MTHFR and APOE genotype in patients with hypertensive disorders of pregnancy: An observational study

Background and objective

Hypertensive disorders of pregnancy could be favoured by polymorphisms in genes affecting vascular physiology. The aim of our work was to study several variants in the genes regulating oxidative stress, plasma lipids metabolism and endothelial function (observational study).

Material and methods

We studied the −930A/G polymorphism of the CYBA gene promoter, the apolipoprotein E (APOE) genotype and the methylene-tetrahydrofolate reductase (MTHFR) gene C677T polymorphism in 134 healthy pregnant women, 266 pregnant with non-proteinuric hypertension (NPH) and 184 patients with preeclampsia (PE).

Results

The GG genotype of the CYBA gene promoter was present in 32.1% of the control population, 38.7% of patients with NPH (P=0.19) and 21.2% of the women with PE (P=0.03). A higher frequency of ∈3/∈4 and ∈4/∈4 genotypes of APOE was observed in patients with PE or NPH compared with controls (P<0.01). There were no significant differences detected in genotype or allele distribution of the MTHFR, C677T polymorphism. APOE ∈3/∈4 and ∈4/∈4 genotypes had a worse lipoprotein profile characterized by higher plasma values of total cholesterol (P<0.05) and triglycerides (P<0.005). Despite no differences in MTHFR C677T polymorphism distribution, higher levels of plasma homocysteine were observed in patients with PE than in patients with NPH or controls.

Conclusions

CYBA and APOE polymorphism showed a different distribution in the groups studied, while no differences were observed in MTHFR C677T polymorphism. APOE genotype was associated with changes in lipid and lipoprotein profiles in pregnant women.

Fundamento y objetivo

Nos propusimos valorar en un estudio observacional si algunos polimorfismos en genes que regulan el estrés oxidativo, los niveles de homocisteina y el metabolismo de los lípidos, podrían predisponer a diferentes trastornos hipertensivos del embarazo.

Material y métodos

Estudiamos el polimorfismo −930A/G del gen promotor del CYBA, el genotipò de la apolipoproteína E (ApoE) y el polimorfismo C677T del gen de la metilen tetrahidrofolato-reductasa (MTHFR) en 134 embarazadas sanas, 266 embarazadas con hipertensión no proteinurica (HNP) y 184 pacientes con preeclampsia (PE).

Resultados

El genotipo GG del promotor del gen del CYBA estuvo presente en el 32,1% de la población de control, en el 38,7% de las pacientes con HNP (p=0,19) y el 21,2% de las mujeres con PE (p=0,03). Los pacientes con PE o HNP, en comparación con los controles, mostraron una mayor frecuencia de genotipos ∈3/∈4 y ∈4/∈4 (p<0,01). No hubo diferencias significativas en la distribución por genotipos del polimorfismo C677T del gen de la MTHFR. Los genotipos ∈3/∈4 y ∈4/∈4 de la ApoE mostraron un peor perfil lipoproteico caracterizado por un aumento de colesterol total (p<0,05) y triglicéridos (p<0,005). A pesar de no haber diferencias en la dsitribución de la mutación C677T del gen de la MTHFR, se observó un aumento de los niveles de homocisteína plasmática en los pacientes con PE.

Conclusiones

Los polimorfismos del gen del CYBA y de la ApoE mostraron una distribución diferente en los grupos estudiados que no se observó en el prolimorfismo C677T del gen MTHFR.