MTHFR C677T AND A1298C GENOTYPES AND HAPLOTYPES
IN SLOVENIAN COUPLES WITH UNEXPLAINED
INFERTILITY PROBLEMS AND IN EMBRYONIC TISSUES
FROM SPONTANEOUS ABORTIONS
Stangler Herodež Š1,*, Zagradišnik B1, Erjavec Škerget A1,
Zagorac A1, Takač I2,3, Vlaisavljević V4, Lokar L5, Kokalj Vokač N1,2
*Corresponding Author: Dr. Špela Stangler Herodež, Laboratory of Medical Genetics, University Clinical Centre
Maribor, Ljubljanska ulica 5, 2000 Maribor, Slovenia; Tel.: 386-2-321-27-37; Fax.: 386-2-321-27-55; E-mail:
spela.sh@ukc-mb.si
page: 31
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INTRODUCTION
Infertility is a worldwide reproductive health
problem that affects approximately 15.0% of married
couples. Half of these cases are due to factors
that affect males [1], and about 60.0-75.0% of male
infertility cases are idiopathic, since the molecular
mechanisms underlying the defects remain unknown
[2]. The female factors contribute the other half and
they are also not well documented [3]. On the other
hand, approximately 20.0% of recognized pregnancies
are terminated as spontaneous abortions; their
genetic etiology, apart from aneuploidy, is largely
unknown [4].
Methylenetetrahydrofolate reductase (MTHFR)
plays an important role in the process of DNA, RNA
and protein metabolism, and is closely related with
spermatogenesis [5-8]. The genetic polymorphisms of the MTHFR gene have been extensively studied,
in particular C677T and A1298C, which have been
identified as risk factors for several diseases such as
arterial and/or venous thrombosis, adverse pregnancy
outcome and congenital malformations [9-14]. These
polymorphisms are significantly overrepresented in
fetal samples from spontaneously aborted pregnancies
[4,15-17]. However, when adult individuals affected
with recurrent early pregnancy loss are tested
for association with both MTHFR polymorphisms
the study results are conflicting and the association
is not always detected [18]. Especially ambiguous
results from studies of female patients affected with
recurrent early pregnancy loss indicate that hereditary
thrombophilia may represent a less important
factor capable of compromising fetal viability [19-
22]. Consequently, routine testing for polymorphisms
associated with hereditary thrombophilia is not part
of the diagnostic protocol for individuals/couples
seeking help for fertility problems. Unless targeted
genetic testing is warranted due to a present typical
clinical picture (i.e., chromosome Y microdeletion
analysis for males with azoospermia), only karyotyping
can usually be offered to couples with no evident
reason for infertility. Therefore, it may be of interest
to investigate whether an association of MTHFR
polymorphisms with infertility can be observed when
couples seeking medical attention for infertility are
compared to a control group of individuals. The aim
of our study was to determine MTHFR C677T and
A1298C genotype and haplotype distributions in
couples with unexplained fertility problems (UFP)
and healthy controls, and to analyze the genotype
and haplotype distribution in spontaneously aborted
embryonic tissues (SAET).
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