C677T polymorphism increases the risk of early spontaneous abortion

Yongjie Liu,Fan Zhang,Liang Dai

doi:10.1007/s10815-019-01500-2

Abstract

PurposeTo investigate the relationship of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in male population having spouses with early spontaneous abortion.MethodsA total of 345 males whose spouses had at least one early spontaneous abortion were included in the study group, and 145 males who planned to have a second child were included in the control group. Semen was collected in a sterile cup by masturbation. After liquefaction, the sperm concentration and forward motility sperm rate (PR) were obtained. The genomic DNA was extracted from peripheral vein, followed by MTHFR C677T polymorphism detection through PCR-gold magnetic nanoparticle chromatography.ResultsThe numbers of alleles and genotypes of MTHFR in the case group were 303 (C), 387 (T), 64 (CC), 175 (CT), and 106 (TT) cases, respectively. The numbers of allele and genotype of MTHFR in the control group were 167 (C), 123 (T), 145 (CC), 65 (CT), and 29 (TT) cases. There were significant differences in the distribution frequency of genotypes (χ2 = 17.005, P = 0.000) and alleles (χ2 = 15.295, P = 0.000) between the two groups. For cases with more spontaneous abortion, more cases had CT and TT phenotypes. Participants with genotype CT had the highest sperm concentration and PR in both groups (P < 0.05).ConclusionsMTHFR could affect sperm DNA integrity through affecting DNA methylation, which led to an increase in the rate of early spontaneous abortion in spouses.

Highlights

Spontaneous abortion is one of the prevalent negative reproductive outcomes among women around the world, which is a great challenge faced by maternal health promotion [1]
A total of 345 males whose spouses had at least one early spontaneous abortion were included in the case group, and 145 males planned to have a second child were included in the control group
The results of Methylenetetrahydrofolate reductase (MTHFR) C677T genotyping showed that the proportion of subjects with the genotype of TT in the case group was significantly higher than in the control group, which was consistent with the report about the percentage of TT genotype for local men (17.8%, 32/180) [16] and women (21.44%, 131/611) [17]

Summary

Introduction

Spontaneous abortion is one of the prevalent negative reproductive outcomes among women around the world, which is a great challenge faced by maternal health promotion [1]. Spontaneous abortion is defined as the loss of a clinically recognized pregnancy that occurs before 20 weeks of gestational age [2]. According to the time of pregnancy termination, spontaneous abortion can be classified as early abortion (< 12 weeks) and late abortion (≥ 12 weeks) [3]. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme of folate/homocysteine pathway [5]. MTHFR play a critical role in the process of reproduction. Homozygosity for MTHFR C677T (late and early-late) and A1298C (earlylate) was the risk factor for idiopathic recurrent pregnancy losses and was not related to total homocysteine levels [8]

Methods

Results

Conclusion