J Matern Fetal Neonatal Med. 2025 Dec;38(1):2505769. doi: 10.1080/14767058.2025.2505769. Epub 2025 May 19.
ABSTRACT
OBJECTIVE: This study aims to investigate the relationship between polymorphisms in key enzyme genes involved in folate metabolism and recurrent spontaneous abortion (RSA).
METHODS: Genotypic data and red blood cell folate levels were collected from 150 patients with RSA and 120 healthy controls. The genotype and allele frequency distribution at the methylenetetrahydrofolate reductase (MTHFR) C677T, A1298C, and methionine synthase reductase (MTRR) A66G loci were analyzed and compared. Additionally, homocysteine levels were measured.
RESULTS: Significant differences in genotype and allele frequencies were observed between the RSA group and the control group at the MTHFR C677T and MTRR A66G loci. Specifically, the distribution of genotypes and alleles at the MTHFR C677T locus showed a marked divergence between the two groups. In the RSA group, the frequency of the TT genotype was notably higher compared to the control group, suggesting a potential association with an increased risk of recurrent spontaneous abortion. Similarly, at the MTRR A66G locus, the AG and GG genotypes were more prevalent in the RSA group than in the control group, further implicating these genetic variants in the pathogenesis of RSA.
CONCLUSION: We identified a significant association between the TT genotype of MTHFR C677T and reduced red blood cell folate concentration. Additionally, the AG and GG genotypes of MTRR A66G were found to be linked to an increased risk of RSA. These findings suggest that specific variants in genes encoding folate metabolism enzymes may contribute to the risk of recurrent spontaneous abortion.
PMID:40389352 | DOI:10.1080/14767058.2025.2505769
