Vol 86, No 10 (2015)
ARTICLES
Coexistence of the 677C > T and 1298A > C MTHFR polymorphisms and its significance in the population of Polish women
DOI: 10.17772/gp/59559
Ginekol Pol 2015;86(10).
Abstract
Objectives: The aim of the study was to evaluate the frequency of the 677C>T and 1298A>C polymorphisms of
the methylenetetrahydrofolate reductase (MTHFR) gene, as well as the coexistence of both these genetic variants
in women from the Polish population.
Material and methods: A total of 662 women from the Polish population were enrolled in the study group. The
frequency of the investigated genotypes of the 677C>T and 1298A>C polymorphisms of the MTHFR gene was
analyzed with the use of PCR/RFLP methods.
Results: The frequency of the 677CC, 677CT and 677TT genotypes in the studied population of women was
50.60%, 39.88% and 9.52%, respectively. As to the 1298AA, 1298AC and 1298CC genotypes, the obtained
results were as follows: 42.75%, 47.88% and 9.37%, respectively (Tables II and III). Simultaneous analysis revealed
the most frequent coexistence of 677CC/1298AC (28.85%), 677CT/1298AA (20.85%) and 677CT/1298AC
(19.03%) genotypes. The coexistence of 677CC/1298AA (12.39%), 677CC/1298CC (9.37%) and 677TT/1298AA
(9.51%) genotypes was observed less frequently. In the studied population of Polish women, the coexistence of
677CT/1298CC, 677TT/1298AC and 677TT/1298CC genotypes has been not observed.
Conclusions: The frequency and coexistence of genotypes of the 677C>T and 1298A>C MTHFR gene
polymorphisms in the studied population of Polish women is similar to other North-European populations. Women
carriers of the mutated variants of both, 677C>T and 1298A>C polymorphisms of the MTHFR gene should receive
special perinatal care in order to prevent fetal defects and thrombosis-related complications during pregnancy. It is
vital to emphasize the significance of proper education of folate supplementation, especially in pregnant patients
and women of reproductive age.
Keywords: MTHFR / genetic polymorphism / general population