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Background <p>Recurrent spontaneous abortion (RSA) refers to the occurrence of two or more consecutive pregnancy losses before 20 weeks of gestation. According to Ministry of Health and Family Welfare, Govt. of India, the prevalence of RSA is approximately 7.4% in Indian women. Several factors, such as epidemiological, genetic and anatomical, are involved in the pathogenesis of RSA. <i>MTHFR</i> gene is involved in folate metabolism, and mutation of this gene in 677 position increases the risk of venous thromboembolism. While <i>VDR</i> gene is mainly responsible for implantation and maturation of fetus, low expression of <i>VDR</i> gene is associated with pregnancy complications, preeclampsia and gestational diabetes mellitus (GDM).</p> Materials and Methods <p>A total of 110 study participants (55 RSA patients and 55 control subjects) were recruited for this case-control study. Genotyping of <i>MTHFR</i> C677T (rs1801133) and <i>VDR</i> C &gt; T (rs2228570) gene variants was done by PCR–RFLP method. χ<sup>2</sup> test and odds ratio with 95% CI were calculated to determine the strength of association of genetic variants with RSA. Bonferroni corrected <i>p</i> value &lt; 0.05 was considered as statistically significant.</p> Results <p>The findings revealed that T allele of <i>MTHFR</i> C677T (rs1801133) variant increases RSA risk (OR—2.494, 95%CI—1.08 to 5.756, <i>p</i> value–0.046) in our study population. There was a lack of association between <i>VDR</i> gene C &gt; T (rs2228570) variant and&#xa0;RSA risk and/or protection.</p> Conclusion <p>The finding of the study demonstrates a significant association of T allele of <i>MTHFR</i> C677T (rs1801133) variant with susceptibility to RSA in our study population.</p>

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Impact of MTHFR C677T (rs1801133) and VDR C > T (rs2228570) gene variants in recurrent spontaneous abortion

  • 期刊论文

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  • 发表日期：

    2025年9月30日

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  • Animesh Chowdhury,
  • Anushka Ray,
  • Suprova Mitra,
  • Ratan Kumar Das,
  • Manoj Lama

摘要

Background

Recurrent spontaneous abortion (RSA) refers to the occurrence of two or more consecutive pregnancy losses before 20 weeks of gestation. According to Ministry of Health and Family Welfare, Govt. of India, the prevalence of RSA is approximately 7.4% in Indian women. Several factors, such as epidemiological, genetic and anatomical, are involved in the pathogenesis of RSA. MTHFR gene is involved in folate metabolism, and mutation of this gene in 677 position increases the risk of venous thromboembolism. While VDR gene is mainly responsible for implantation and maturation of fetus, low expression of VDR gene is associated with pregnancy complications, preeclampsia and gestational diabetes mellitus (GDM).

Materials and Methods

A total of 110 study participants (55 RSA patients and 55 control subjects) were recruited for this case-control study. Genotyping of MTHFR C677T (rs1801133) and VDR C > T (rs2228570) gene variants was done by PCR–RFLP method. χ2 test and odds ratio with 95% CI were calculated to determine the strength of association of genetic variants with RSA. Bonferroni corrected p value < 0.05 was considered as statistically significant.

Results

The findings revealed that T allele of MTHFR C677T (rs1801133) variant increases RSA risk (OR—2.494, 95%CI—1.08 to 5.756, p value–0.046) in our study population. There was a lack of association between VDR gene C > T (rs2228570) variant and RSA risk and/or protection.

Conclusion

The finding of the study demonstrates a significant association of T allele of MTHFR C677T (rs1801133) variant with susceptibility to RSA in our study population.