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Polymorphisms in MTHFR, MTHFD, and PAI-1 and recurrent miscarriage among North Indian women

  • Reproductive Medicine
  • Published:
Archives of Gynecology and Obstetrics Aims and scope Submit manuscript

Abstract

Purpose

The aim of this study was to investigate the association between MTHFR C677T, A1298C, MTHFD G1958A and plasminogen activator inhibitor type 1 (PAI-1) 4G/5G polymorphism among first trimester recurrent miscarriages.

Materials and methods

DNA was extracted from peripheral blood samples from 200 patients and 300 controls. Polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP) and sequencing were used to identify the polymorphisms. We have analyzed the frequencies, odds ratio, Hardy–Weinberg equilibrium.

Results

MTHFR C677T, A1298C, and MTHFD G1958A variant alleles were found to be significantly more prevalent in patients than control. However, variant genotype of MTHFR C677T (OR = 2.54; 95 % CI = 1.23–5.24; p value = 0.014), 1298C (OR = 2.23; 95 % CI = 1.09–4.52; p value = 0.028), and MTHFD-1958 showed significant association with pregnancy loss (OR = 2.36; 95 % CI = 1.39–4.02; p value = 0.002). Both MTHFR 677 and MTHFD 1958 showed susceptible effect under recessive model of inheritance. PAI-1 mutations showed no significance.

Conclusion

We observed significant susceptible effects of MTHFR C677T, A1298C, and MTHFD G1958A among RM cases. Our data points toward the multifactorial nature of the recurrent miscarriage as relative contribution of variant genotype of MTHFR C677T is only twofold and further decreased to only onefold, and MTHFD-1958 lost its significance upon meta-analysis.

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Acknowledgments

We are thankful to the Indian council of medical research for providing senior research fellowship to Ms. Farah Parveen. We also acknowledge Prof. Shubha Phadke and Prof. Vinita Das for providing well characterized RM cases.

Conflict of interest

The authors declare that there is no conflict of interest, either of a financial or other nature, in relation to this work.

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Authors and Affiliations

  1. Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Rae Bareli Road, Lucknow, UP, 226014, India

    Farah Parveen, Moni Tuteja & Suraksha Agrawal

Authors
  1. Farah Parveen
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  2. Moni Tuteja
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  3. Suraksha Agrawal
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Corresponding author

Correspondence to Suraksha Agrawal.

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404_2013_2877_MOESM1_ESM.docx

PCR amplification and restriction digestion of thrombophilic genes: MTHFR 677, 1298, MTHFD 1958 and PAI-1 4G/5G. (DOCX 13 kb)

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Parveen, F., Tuteja, M. & Agrawal, S. Polymorphisms in MTHFR, MTHFD, and PAI-1 and recurrent miscarriage among North Indian women. Arch Gynecol Obstet 288, 1171–1177 (2013). https://doi.org/10.1007/s00404-013-2877-x

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  • DOI: https://doi.org/10.1007/s00404-013-2877-x

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