Carla Herrera-Nájera, Lizbeth González-Herrera, José Pérez-Motul
Centro de Investigaciones Regionales, Dr. Hideyo Noguchi, Calle 59 No 490 x Avenue. Itzáes. Centro C.P. 97000, Merída, Yucatán; Mexico
Preeclampsia/ Eclampsia (PE/E) is a serious complication of the second half of human pregnancy, affecting between 5% and 10% of all pregnancies and it is the major cause of maternal and perinatal morbidity and mortality worldwide. The development and pathophysiology of PE/E are associated with haemostatic and thrombophilic abnormalities, suggesting the presence of some genetic variants that confer a thrombophilic risk and elevated plasma levels of homocysteine, which might participate in the etiology of PE/E. So, candidate genes for preeclampsia susceptibility include those involved in blood pressure control, placental function, and vascular disease. Hyperhomocysteinemia has also been reported to be more prevalent among preeclamptic women. Hyperhomocysteinemia is associated with mutations either in the gene MTHFR or in the gene for CBS. The purpose of this study was to evaluate de association between PE/E and three common polymorphisms, C677T, A1298C in the MHTFR gene and the 844ins68pb in the CBS gene in Mexican women. We analyzed three groups of women: 118 women with preclampsia (PE), 16 women who developed seizures during pregnancy, formed the eclamptic group (E) and 123 normoevolutive pregnant women as a control group. Polymorphisms were determined by PCR-RFLP's. Allelic, genotypic and haplotypic frequencies were compared between cases and controls using the statistical software EpiInfo 2000. Comparison of C677T polymorphism frequencies between PE and control group did not show statically significant difference for any genotype nor for the 677T allele (p> 0.05). Whereas, a statistical significant difference was found for the homozygous genotype of A1298C (RR= 2.09 IC:1.78-244) and for haplotype CC-AC (OR= 4.21 IC:1.16-1.85, p=0.012). Interestingly, a statistical difference was obtained for the ins68 pb in the CBS gene as a protective factor (OR= 0.24 IC 0.05- 0.95). Comparing between E and control, statically significant differences were found for TT, CT genotype and 677T allele with OR= 5.49, 2.54 and 1.84, respectively with limitation in sample size. Additionally, haplotype TTAA was significantly different for E group (p=0.041). Our data suggested that the C677T polymorphism in MTHFR gene and the TT genotype are not associated risk factors for PE, whereas the A1298C polymorphism is associated with the disease, and surprisingly, the ins 68 pb in the CBS gene might be a protective factor for PE in the studied population. However, the C677T polymorphism and TT genotype might be associated risk factors for eclampsia or for developing seizures during pregnancy although limitations in our sample size.
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