Relationship between unexplained recurrent pregnancy loss and 5,10-methylenetetrahydrofolate reductase) polymorphisms

Abstract

Objective: To investigate the relationship between unexplained recurrent pregnancy loss (URPL) and polymorphisms of folate metabolism-related genes. Design: A case-control study. Setting: Urban university-based hospital. Patient(s): Two-hundred and eighteen women with URPL and 264 healthy controls. Intervention(s): None. Main Outcome Measure(s): Fluorescence quantitative polymerase chain reaction examination of sequences of the C677T and A1298C loci of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene. Result(s): The frequency of the T allele at the MTHFR C677T locus in the URPL group was statistically significantly higher compared with the control group (odds ratio [OR] 1.324; 95% confidence interval [CI], 1.014-1.729), and the presence of the CCþCT genotype was statistically significantly reduced in the URPL group (OR 0.678; 95% CI, 0.471-0.974). The frequency of the C allele at the MTHFR A1298C locus in the URPL group was statistically significantly higher than that in the control group (OR 1.557; 95% CI, 1.066-2.275), and the presence of the CCþAC genotype was statistically significantly elevated in the URPL group (OR 1.740; 95% CI, 1.137-2.661). The frequency of MTHFR 677CT/1298AC compound genotypes in the URPL group was 6.589-fold higher compared with the control group. Most patients in the URPL group carried two mutant genes (69.3%), and the percentage of patients with two mutant genes was statistically significantly higher than in the control group (OR 4.996; 95% CI,). Conclusion(s):The MTHFR 1298AC genotype and composite heterozygote genotype (677CT/1298AC) are risk factors for URPL. The risk of URPL is highest in women carrying two mutations of A1298C and C677T locus in MTHFR. (Fertil Steril Ò 2019;111:597-603. Ó2018 by American Society for Reproductive Medicine.) El resumen está disponible en Español al final del artículo.

Polymorphisms of methalenetetrahydrofolate reductase in recurrent pregnancy loss: an overview of systematic reviews and meta-analyses

“…The mild tendency of A1298C in Heterozygous model might attribute to composite C677T and A1298C. Xu [44] has found that compound 677/1298 heterozygous genotype is a risk factor in RPL. In 218 in RPL group and 264 in control group, no composite homozygote genotype appeared; however, patients with composite heterozygote (677CT-1298AC) presented with higher risk compared with the control group (OR, 95%CI 4.996, 1.65-15.129).…”

A rare variant in the IL22RA2 gene is associated with unexplained recurrent pregnancy loss in Han Chinese women

“…Recurrent pregnancy loss (RPL) is a highly heterogeneous condition and defined as two or more sequential abortions before the 20th week of gestation [1,2]. This condition affects approximately 1-2% of fertile couples, and becomes a common public reproductive concern causing both physical and emotional burdens [1,3].…”

Mechanism of LIN28B in trophoblastic villous cells of unexplained recurrent abortion

“…However, with 50% of RSA still occurring due to unknown causes, we designate this as unexplained recurrent abortion (URSA) 1 . URSA is an excluded diagnostic disease, and its diagnosis and treatment still face great challenges, although studies have shown that the underlying causes of RSA include systemic endocrine and immune disorders 1,[4][5][6][7][8] . Many scholars are now paying close attention to the gamete and the regulation of maternal-fetal interactions after blastocyst implantation [9][10][11] .…”