Špela Stangler Herodež (Author), Boris Zagradišnik (Author), Alenka Erjavec Škerget (Author), Andreja Zagorac (Author), Iztok Takač (Author), Veljko Vlaisavljević (Author), Lidija Lokar (Author), Nadja Kokalj-Vokač (Author)

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 (chi2 21.73, p <0.001) although female probands made no contribution (chi2 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.

Keywords

metilentetrahidrofolat reduktaza;genski polimorfizem;genotip;haplotip;neplodnost;spontani splav;zarodek;

Data

Language: English
Year of publishing:
Typology: 1.01 - Original Scientific Article
Organization: UM - University of Maribor
UDC: 618.39-021.3
COBISS: 4757823 Link will open in a new window
ISSN: 1311-0160
Views: 957
Downloads: 268
Average score: 0 (0 votes)
Metadata: JSON JSON-RDF JSON-LD TURTLE N-TRIPLES XML RDFA MICRODATA DC-XML DC-RDF RDF

Other data

Secondary language: Slovenian
Secondary keywords: metilentetrahidrofolat reduktaza;genski polimorfizem;genotip;haplotip;neplodnost;spontani splav;zarodek;
URN: URN:SI:UM:
Type (COBISS): Scientific work
Pages: str. 31-39
Volume: ǂVol. ǂ16
Issue: ǂ[no.] ǂ1
Chronology: 2013
ID: 9595678