Association of parental methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism in couples with unexplained recurrent pregnancy loss

Abstract

ObjectiveThe aim of this study was to identify the association of parental MTHFR C677T gene polymorphism in couples with and without RPL history.ResultsDuring the study, 21.4% (15/70) of Ala222Val polymorphism was observed among RPL couples while no polymorphism was seen among normal, healthy couples. Our study did not find any association between MTHFR C677T polymorphism and gender (p > 0.05), gestational period (p > 0.05), geographical region (p > 0.05) and menstrual history (p > 0.05). However, significant association was seen between MTHFR C677T polymorphism and number of losses (p < 0.05), concluding that the risk of the polymorphism increased with the increase in number of losses. Significant variation in the MTHFR C677T genotype with number of losses among RPL couples were seen but not with other study variables.Electronic supplementary materialThe online version of this article (10.1186/s13104-018-3321-x) contains supplementary material, which is available to authorized users.

Women Taking a Folic Acid Supplement in Countries with Mandatory Food Fortification Programs May Be Exceeding the Upper Tolerable Limit of Folic Acid: A Systematic Review

“…A lack of 5-MTHF may therefore compromise DNA methylation, cause uracil misincorporation, chromosomal breaks, impaired ovarian follicle development and increased risk of pregnancy loss [32]. Folate metabolism can be impaired in people who carry the methylenetetrahydrofolate gene (MTHFR) polymorphisms, resulting in reduced enzyme activity and therefore a reduction in 5-MTHF [34][35][36]. The MTHFR gene has been linked to infertility in both men and women [37][38][39][40][41][42][43].…”

“…folic acid results in a global loss of methylation across the sperm methylome and leads to altered sperm epigenome and sperm DNA methylation, lower pregnancy rates, infertility rates and abnormal embryos [128,129]. A lack of 5-MTHF contributes to an elevation in follicular levels of homocysteine [35,130] which correlates to adverse pregnancy outcomes as folate receptor-α has a high affinity for 5-MTHF and ensures cellular uptake where the folate receptor is expressed in the ovary, oocytes and human embryonic stem cells [32]. These biochemical mechanisms may underpin the reported links between MTHFR polymorphism and infertility [37,38,40,41,131], implantation failure [22] and recurrent pregnancy loss [24,36,46,130,132].…”

MTR, MTRR and CBS gene polymorphisms in recurrent miscarriages: A case control study from North India

“…The significance of One-Carbon Metabolic Pathway (OCMP) in association with RM is quite evident from the literature. [ 8 9 10 ] OCMP is guided both by biochemical as well as genetic polymorphisms. It is likely to be disturbed because of folic acid supplementation as folate acts as one of the critical cofactors playing a major role in the foetal epigenetic programming via OCMP.…”

“…MTHFR is a widely studied genetic marker as compared to other genetic polymorphisms in RMs. [ 8 9 10 14 15 ] Despite extensive studies in Obstetrics/Gynaecology clinics and in vitro fertilisation centres worldwide of this sporadic complication of early pregnancy, the aetiology of RM remains poorly understood. [ 3 16 ]…”

The SNP rs4846048 of MTHFR enhances the cervical cancer risk through association with miR‐522: A preliminary report

“…Single nucleotide polymorphisms (SNPs) of MTHFR may reduce enzyme activity and increase thermal instability, thus resulting in dysfunction of MTHFR activity, folate and methionine levels in the circulation pool (Bagley & Selhub, ; Frosst et al, ). The accumulation of 5,10‐methylenetetrahydrofolate and the reduction of 5‐methyltetrahydrofolate might cause errors in DNA synthesis and methylation, eventually inducing dysfunction of a series of biosynthesis and metabolic pathways (Friso et al, ; Sah et al, ). More than 20 SNPs of MTHFR have been identified, among which the catalytic area of 677C→T and functional adjustment area 1298A→C have been reported to be closely linked with human disease (Nasr, Sami, & Ibrahim, ).…”