Association of paternal/maternal combinations of MTHFR, MTRR, MTR1 genes in risk of development the reproductive disorders in married couples
- 1National Medical Academy of Postgraduate Education named after P.L. Shupik, Kyiv
- 2SI «Reference center for molecular diagnostics of the Ministry of Health of Ukraine», Kyiv
- 3Institute of Genetic and Regenerative Medicine of the National Academy of Medical Sciences of Ukraine, Kyiv
Summary. Aim — to investigate the combinations of paternal and maternal genotypes of MTHFR (C677T, rs1801133 and A1298C, rs1801131), MTRR (A66G, rs1801394), MTR1 (A2756G, rs1805087) genes in the development of early reproductive losses and unspecified infertility. The object and methods of research. Molecular genetic studies of MTHFR (C677T, rs1801133; A1298C, rs1801131), MTRR (A66G, rs1801394), MTR1 (A2756G, rs1805087) were performed in 206 married couples with reproductive disorders and 35 married couples of the comparison group. The analysis of genotype combinations frequency was carried without and with define genotypes origin in the married couple: paternal (p) or maternal (m). Results. The combination of 1298AA paternal genotype аnd 1298CC maternal genotype in MTHFR gene were associated with increased risk of infertility, and 66GG paternal genotype with 66AG maternal genotype in MTRR gene — with reproductive losses. On the contrary, the development risk of reproductive disorders was significantly reduced in the presence of parental couple combinations genotypes: 66AA+66AA in MTRR gene and 2756AA+2756AA in MTR1 gene. The were determind significant genetic risk 6-locus models of unspecified infertility (MTRR_A66G (р)/MTRR_A66G (m)/MTHFR_C677T (р)/MTHFR_C677T (m)/MTHFR_A1298C (р)/MTR1_A2756G (m)) and early pregnancy loss (MTRR_A66G (р)/MTRR_A66G (m)/MTHFR_С677T (р)/MTHFR_A1298C (р)/MTR1_A2756G (р)/MTR1_A2756G (m)), with predictive value 63.72% and 64.89%, respectively.