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

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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