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Methylenetetrahydrofolate Reductase (MTHFR) genetic polymorphisms and the risk of infertility in couples accessing Assisted Reproductive technologies: a systematic review
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Methylenetetrahydrofolate Reductase (MTHFR) genetic polymorphisms and the risk of infertility in couples accessing Assisted Reproductive technologies: a systematic review

Carolyn Ledowsky, Amie Steel and Janet Schloss
Advances in Integrative Medicine, Vol.8(3), pp.220-229
2021
DOI: https://doi.org/10.1016/j.aimed.2021.05.004
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Methylenetetrahydrofolate Reductase (MTHFR) genetic polymorphisms and the risk of infertility in couples accessing Assisted Reproductive technologies: a systematic reviewView
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Abstract

1801133 A1298C ART Assisted Reproductive Technology C677T Genetic Mutation In vitro fertilisation Infertility IVF Methylenetetrahydrofolate reductase MTHFR Polymorphism Variant
Objectives: The aim of this literature review is to examine the relationship between Methylenetetrahydrofolate reductase (MTHFR) polymorphisms and assisted reproductive technologies in men and women accessing fertility services. Design: Systematic literature review using Preferred Reporting Items for Systematic Reviews and MetaAnalyses Methods: This systematic literature review involved searches conducted through the Medline, EMBASE, CINAHL and Scopus databases to identify observational studies examining MTHFR polymorphism incidence in infertile couples seeking support through In vitro fertilisation and/or Fertility clinics. Results: The included studies (n = 16) identified an association with male infertility including azoospermia, oligozoospermia and teratozoospermia for the Methylenetetrahydrofolate reductase polymorphisms C677T and A1298C. A newly-identified AA allele of the MTHFR G1793A polymorphism was found to be protective against oligospermia and males with this polymorphisms had higher sperm counts. Studies also associated the new allele MTHFR179GA GG allele with female infertility. A strong association between individuals with C677T homozygous alleles receiving assisted reproductive technology and higher AMH levels, implantation failure, and lower ovarian responsiveness was also reported. Women with A1298C polymorphisms had few follicles, lower E2 levels and were less likely to have a viable pregnancy or live birth after in vitro fertilisation. Implantation failed in one in four embryos that were homozygous for C677T. Conclusions: The MTHFR genetic polymorphism may be associated with infertility in couples seeking assisted reproductive technologies.

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