The Relationship Of The Folate Metabolism Related Enzymes MTHFR、MTRR Gene Polymorphisms With Unexplained Recurrent Spontaneous Abortion

ObjectivesTo investigate the relationship of methylenetetrahydrofolate reductase(MTHFR) C677 T,A1298C,methioninesynthase reductase(MTRR) A66 G with unexplained repeated spontaneous abortion. MethodsCase control study was used,to select 197 patients with unexplained recurrent spontaneous abortion( miscarriage group) and 116 normal women( control group) who were admitted to Tianjing Medical University General Hospital and Tianjin women and childrens health center from Jan to Dec 2013,extraction of oral mucosal epithelial cells,using fluorescence quantitative PCR detection of MTHFR gene C677 T,A1298C and MTRR gene loci of A66 G single nucleotide polymorphisms( SNP). Analysis The relationship of plasma homocysteine and the folate metabolism related enzymes gene polymorphisms with unexplained repeated spontaneous abortion with SPSS software ResultsThere was statistical significance in URSA group compared with the control group MTHFR C677 T locus and allelic distribution difference(P < 0.05), the patients with the TT mutation is far higher than that of the control group, which may be TT mutations lead to sick patients. However, no significant difference between MTHFRA1298 C MTRRA66G mutation frequencies between URSA group and control group(P > 0.05). URSA group compared with the control group, there was significant difference in MTHFR activity, plasma homocysteine, folic acid red cells, plasma folic acid(P < 0.05), plasma folate levels of MTHFR enzyme activity, erythrocyte folate, URSA group is far lower than that of the control group, while the level of homocysteine is far higher than that of control group.The existence of negative MTHFR enzyme activity in control group and homocysteine(Hcy), R =-0.342, positive correlation with plasma folate and red cell folate exist, R(plasma folic acid) = 0.346, R(red cell folate) = 0.419. The existence of negative URSA in the group of MTHFR enzyme activity and homocysteine(Hcy), R =-0.466, positive correlation with plasma folate and red cell folate exist, R(plasma folic acid) = 0.416, R(red cell folate) = 0.314. Group URSA: The number of the abortion was not correlated with the(C677T) and the A66G(MTRR) of the MTHFR gene, and there was a correlation between the number of the P>0.05 and the age and A1298C(P < 0.05).URSA group in different age groups of serum folic acid, red cell folate, homocysteine have no significant difference(P >0.05)ConclusionsRelationship between MTHFRC677 T gene mutation and URSA risk is, consider the TT allele may be a susceptible gene URSA genetic. MTHFRA1298 C, MTRRA66 G gene mutation and URSA risk has no relativity. URSA group and the control group in MTHFRC677 T, A1298 C gene polymorphisms influence the activity of MTHFR enzyme, with a correlation between MTHFR activity and plasma folic acid, red cell folate, plasma homocysteine levels, it showed that the enzyme activity is lower, the plasma levels of folic acid, red cell folate level is low, the activity of MTHFR enzyme homocysteine level is high the URSA group is far lower than that of control group. URSA group of homocysteine levels far higher than that of the control group, and plasma folate levels of red cell folate, far lower than that of control group. The plasma levels of HCY, folate concentrations are independent risk factors of URSA, suggesting a lack of folic acid, plasma HCY was increased to URSA increases the risk of. URSA group in age and plasma folic acid, red cell folate, homocysteine levels is not relevant, but correlated with the number of abortion, that along with the increase of age the possibility of abortion. The number of abortion and mutation of MTHFRA1298 C gene has correlation, indicating the possibility of A1298 C mutation may increase the abortion.