Introduction and objective:
The significance of MTHFR gene polymorphisms in the course of pregnancy has not been definitively resolved. Variants c.665C>T and c.1286A>C in the MTHFR gene leads to increased concentration of homocysteine. The aim of the study was to evaluate homocysteine serum concentrations in Polish women with recurrent pregnancy loss, depending on the presence of the MTHFR gene variants c.665C>T and c.1286A>C in the MTHFR gene.

Material and methods:
137 women with recurrent miscarriages, normal karyotype and normal molecular tests results for the variants c.1691G>A of F5 gene and c.97*G>A of F2 gene were qualified for the study. The relationship between the presence of the MTHFR gene polymorphisms c.665C>T and c.1286A>C in gene MTHFR and homocysteine serum concentration was stadied.

There were no significant differences found in homocysteine levels in the study group of women with recurrent miscarriages. There were no differences in homocysteine concentration in patients with MTHFR gene c.655C>T polymorphism (heterozygous nor homozygous), compared to patients without the MTHFR gene polymorphism (CC wild type). Similarly, no differences were noted between patients with AA-wild type and patients with the MTHFR variant c.1286A>C (heterozygous nor homozygous). There was no also correlation between homocysteine concentration and women’s age, regardless of the patients’ group (control vs. study groups).

The c.655C>T and c.1286A>C variants of the MTHFR remain without significant impact on homocysteine concentration in Polish women with recurrent pregnancy loss.

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