Hum. Reprod. Advance Access published online on October 25, 2007
Human Reproduction, doi:10.1093/humrep/dem337
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Genotypes of the C677T and A1298C polymorphisms of the MTHFR gene as a cause of human spontaneous embryo loss
1 Department of Biochemistry, Hospital Costa del Sol, Marbella, Spain 2 Department of Biochemistry and Molecular Biology, University of Malaga, Bulevar Louis Pasteur s/n, 29071 Malaga, Spain 3 Department of Pathologic Anatomy, Hospital Materno-Infantil Carlos Haya, Malaga, Spain 4 Department of Fertility, Clinica Rincón, Malaga, Spain
5 Correspondence address. E-mail: engel{at}uma.es
BACKGROUND: Polymorphisms C677T and A1298C of the MTHFR gene have been implicated in fetal viability. In this study, we determined the allele and genotype frequencies of these polymorphisms in different populations, including spontaneous abortion (SA) fetal tissues, with the objective of evaluating their impact on fetal viability.
METHODS: 342 samples of fetal tissues, selected from SA occurring during the 1980s, 230 samples from subjects born in the 1980s and a third set of samples from 204 subjects born in the 1950s, were genotyped by using TaqMan probes.
RESULTS: The wild CC genotype of the C677T polymorphism showed a strong protective effect against abortion (0.03 in SA versus 0.47 in 1950s and 0.43 in 1980s) (P < 0.0001). Genotypes of three mutations in the combinations of polymorphisms for C677T and A1298C showed a very low frequency in the living population; however, the three mutations genotypes were over expressed in the SA group (0.02 in 1950s; 0.03 in 1980s and 0.17 in SA) (P < 0.0001). Samples with four mutations (n = 2) were found only in the SA group.
CONCLUSIONS: There is no linkage disequilibrium between C667T and A1298C polymorphisms. Fetal viability is directly related to the CC genotype as a protector while the three and four mutation MTHFR genotypes appear to be a determinant on fetal non-viability and SA.
Key words: MTHFR/MTR/polymorphism/folate/spontaneous abortion
Submitted on July 23, 2007; resubmitted on September 17, 2007; accepted on September 26, 2007.
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