Association of MTHFR genetic variants C677T and A1298C on predisposition to spontaneous abortion in Slavonic population

• Up to 20% of pregnancies end in the first trimester by spontaneous abortion (SA).
• MTHFR SNPs C677T + A1298C in 464 samples of SA and 2486 adults were genotyped.
• Carriers of at least three T677 and/or C1298 alleles were under higher risk of SA.

AimUp to 20% of pregnancies end in the first trimester by spontaneous abortion but the cause of a large proportion remains unexplained. The aim of this study was to investigate the role of two common variants (rs1801133, C677T and rs1801131, A1298C) within the MTHFR gene in the genetic determination of spontaneous abortions.MethodsDNA from 464 tissue samples of spontaneous abortions and population sample of adults (N = 2,486) were genotyped for both MTHFR polymorphisms of interest.ResultsThe frequencies of the MTHFR polymorphisms in tissues from spontaneous abortions did not differ from the population cohort. However, when combined, carriers of at least three rs1801133 and/or rs1801131 alleles were more common in the spontaneous abortions (61.4%) than in controls (55.4%) and this combination was associated with higher risk of abortion (OR 1.28; 95% CI 1.05–1.57; P = 0.017). In contrast, carriers of at least three minor alleles (T677 and C1298) of these polymorphisms were very rare in both groups (0.8% and 0.9% respectively).ConclusionsOur study suggests that distinct combinations of the MTHFR polymorphisms could be associated with higher risk of spontaneous abortions in Caucasians.