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 download article in pdf format
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Abstract
The objective of this study was to analyze the
methylenetetrahydrofolate reductases (MTHFRs)
C677T and A1298C genotype 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) using allele specific polymerase
chain reaction (PCR) in 200 probands with
UFP, 353 samples of SAET and 222 healthy controls.
The analysis revealed a significant overall representation
of the 677T allele in male probands from couples
with UFP (p = 0.036). The combined genotype distribution
for both MTHFR polymorphisms was also
significantly altered (c2 21.73, p <0.001) although
female probands made no contribution (c2 1.33, p
= 0.72). The overall representation of the 677T allele
was more pronounced in SAET (0.5 vs. 0.351 in
controls, p <0.001) regardless of the karyotype status
(aneuploidy vs. normal karyotype). In addition, the
frequencies of the CA and CC haplotypes were significantly
lower than in the control group (p = 0.021
and p = 0.001, respectively), whereas the frequency
of the TC haplotype was significantly higher than in
controls (p <0.0001). The presented findings indicate
that only male probands contribute to the association
of MTHFR mutations with fertility problems in
grown adults and demonstrate a high prevalence of
mutated MTHFR genotypes in SAET.
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