ABSTRACT
To determine whether the C677T polymorphism of the methylenetetrahydrofolate reductase
(MTHFR) gene and the Leiden mutation of coagulation factor V (FV) are associated with recurrent
spontaneous abortion (RSA) of unexplained etiology in Japanese participants, the genotypes
of the two polymorphisms were determined and compared between cases of unexplained
RSA and normal pregnant controls. Eighty-three Japanese participants, consisting of
45 women with explained RSA and 38 women with unexplained RSA, and 174 controls were
recruited in the study. The frequencies of the T677 allele/TT genotype were not significantly
different among women with explained RSA (35.6%/13.3%), women with unexplained RSA
(34.2%/7.9%), primigravid controls (35.1%/11.7%), and multigravid controls (39.7%/16.5%).
In the cases of unexplained RSA, the frequencies of the T677 allele and TT genotype
tended to increase according to the number of previous spontaneous abortions, but
the increase was without statistical significance: the frequencies of the T677 allele
and TT genotype in women with two abortions were 18.2% and 0%, whereas in women with
three abortions the frequencies were 38.0% and 9.5%, and in women with four or more
abortions the frequencies were 50.0% and 16.7%, respectively. In addition, no Leiden
mutation of FV was detected in the women with RSA or the controls. Neither T677 of
the MTHFR nor the Leiden mutation of FV was associated with unexplained RSA in the Japanese
population.
KEYWORDS
Recurrent spontaneous abortion -
MTHFR
- factor V - gene - polymorphism
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Dr.
Gen Kobashi
Department of Health for Senior Citizens, Hokkaido University Graduate School of Medicine
N15 W7, Sapporo 060-8638, Japan
eMail: genkoba@med.hokudai.ac.jp
