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Updated: Aug 15, 2025

Methyl-binding DNA capture Sequencing for Patient Tissues
Published on: October 31, 2016
Correlation between methylenetetrahydrofolate reductase gene-specific methylation and recurrent spontaneous abortion
Peng-Fei Zhu1, Zhi-Jiao Song2, Xing-Yu Bi1
1Center of Reproductive Medicine, Children's Hospital of Shanxi and Women Health Center, Shanxi, China.
Objective:
To investigate the correlation between methylenetetrahydrofolate reductase (MTHFR) gene-specific methylation and recurrent spontaneous abortion (RSA).
Methods:
A total of 50 RSA patients who visited our hospital were recruited in the study group; 50 multiparous women who underwent physical examinations during the same period were enrolled in the control group. The levels of homocysteine, folic acid, and vitamin B12 and their MTHFR gene polymorphism and specific methylation were measured in both groups. The Logistic regression equation was used to analyze the correlation between MTHFR gene-specific methylation and RSA.
Results:
The methylated allele MM was not found in the control group, and the frequency in the study group was 1.19%. The frequency of the MU genotype in the study group 32.93% was higher than that in the control group 12.45%. The frequency of methylated alleles of CC and CT genotypes carrying MTHFR C677T polymorphism in the study group was higher than that in the control group (P < 0.05). There was no significant difference in the TT genotype between the two groups (P > 0.05). Multivariate Logistic regression analysis exhibited that patients with methylated alleles of CC genotype had a risk of RSA increased by 1.167 times, and the risk increased by 2.500 times in patients with methylated alleles of CT genotype (P < 0.05). 83.33% of RSA patients carrying methylated alleles affected hyperhomocysteinemia. In patients with elevated homocysteine levels, the risk of RSA caused by methylated allele was significantly increased by 7.321 times.
Conclusion:
MTHFR gene-specific methylation can significantly increase the risk of RSA.
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