The MTHFD1 c.1958 G>A polymorphism and recurrent spontaneous abortions

Abstract

Objective. Our aim was to evaluate the possible association between recurrent spontaneous abortions (RSA) and the c.1958 G>A SNP in the MTHFD1 gene encoding a trifunctional enzyme involved in DNA synthesis and folate metabolism.

Methods. By the means of PCR-RFLP we genotyped 131 women with a history of at least two consecutive spontaneous abortions and a matched number of controls.

Results. Our findings show an allele frequency of 44.3% of the A allele and 55.7% of the G allele in patients and 42.4% of the A allele and 57.6% of the G allele in controls.

Conclusions. No major difference between cases and controls was revealed, therefore, it is unlikely that this SNP plays a major role in RSA.

Keywords:

• Recurrent spontaneous abortions
• MTHFD1
• genetic polymorphism
• Romanian population

Acknowledgements

The authors would like to thank Mr. Lawrence C. Brody, Senior Investigator Genome Technology Branch, Head of Molecular Pathogenesis Section, National Human Research Institute, Bethesda, USA, for providing the protocol of the MTHFD1 c.1958 G>A genetic assay. We would also like to thank Mr. Daniel Leucuţa, MD, Assistant Professor, Department of Medical Informatics and Biostatistics, ‘Iuliu Haţieganu’ University of Medicine and Pharmacy, Cluj-Napoca, Romania, for his support in performing the statistical analysis. This study was partially supported by the 546 research grant of the National Council of Universitary Scientific Research (CNCSIS), Romania.