TITLE:
Relationship between Methylenetetrahydrofolate Reductase (C677T), Factor V Leiden (G1691A), Prothrombin Mutation (G20210A) and Severe Preeclampsia in a Brazilian Population
AUTHORS:
Thiago F. V. Freire, Gervina B. M. Holanda, Debora M. da Costa, Zuleika S. Sampaio, Francisco E. L. Feitosa, Silvia H. B. Rabenhorst
KEYWORDS:
Preeclampsia, Thrombophilia, Neonatal Outcomes, FV Leiden, Prothrombin, MTHFR
JOURNAL NAME:
Open Journal of Obstetrics and Gynecology,
Vol.4 No.10,
July
28,
2014
ABSTRACT: Objectives: To better
understand the etiologic factors that can influence preeclampsia, we inves-
tigated hereditary factors for thrombosis, FV Leiden, F II 20210A mutation and
the polymorphism C677T of the MTHFR, as singly and as in association, in a
group of women from Ceará state-Northeast Brazil with severe preeclampsia.
Material and Methods: We conducted a case-control study. 101 cases of severe
preeclampsia were recruited from School Maternity Assis Chateaubriand, a
reference Maternity of State of Ceará, Brazil, from December 2009 to December
2010. For clinical correlations, women were interrogated about fetal low weight
(less than2500 grams) and fetal loss in previous pregnancies. Low weight, fetal
loss and necessity of neonatal intensive care unit (neonatal ICU) related to
current pregnancy were registered. 245 healthy voluntary women were recruited
from the blood bank donors to verify the frequency of FV Leiden, FII and MTHFR
as a control group. The study was approved by the Committee on Ethics in Human
Research of Maternidade Escola Assis Chateubriand and all individuals gave
their informed consent to participate in the study. Standard veinipuncture,
with EDTA as anticoagulant, was used to collect blood samples. Genomic DNA was
extracted, soon after, using a salting out method. Agarose gel electrophoresis
with ethidium bromide staining was performed to ensure the quality of DNA
extraction. Results: The frequencies of FV Leiden and FII mutation carrier were
0.99% (1/101) for both factors in the preeclampsia patients and 1.86% (4/214)
and 0.93% (2/214), respectively, in control group. All mutates were
heterozygous and concomitance of both mutations was not found. The genotype
distribution of the MTHFR C677T in the patients and controls frequencies was in
Hardy-Weinberg equilibrium (p ≤ 0.05). No statistical difference was observed
between cases and controls in MTHFR genotypes or alleles. Conclusions: The FV
Leiden, FII G20210A mutation and MTHFR C677T were not risks for preeclampsia
development. FV Leiden and FII G20210A mutations had low frequency in the
population studied, which may justify the absence of association.