ArticleJournal of assisted reproduction and genetics2021
MTHFR (methylenetetrahydrofolate reductase: EC 1.5.1.20) SNPs (single-nucleotide polymorphisms) and homocysteine in patients referred for investigation of fertility.
Article in Journal of assisted reproduction and genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 30 citations in OpenAlex.
- MTHFR Gene Polymorphisms: A Single Gene with Wide-Ranging Clinical Implications-A Review.Genes · 2025Review
- Can some metabolic one-carbon cycle linked diseases be prevented? The impact of treating hypo-fertile couples carrying MTHFR SNPs with folic acid and 5-MTHF on outcomes in the offspring: a case retrospective series.Journal of assisted reproduction and genetics · 2025Article
- Personalized nutrition and precision medicine in perimenopausal women: A minireview of genetic polymorphisms COMT, FUT2, and MTHFR.Clinics (Sao Paulo, Brazil) · 2025Review
- The gene polymorphisms of eNOS and MTHFR modulates the development of preeclampsia in Han population.Heliyon · 2023Article
- The importance of preconception Hcy testing: identification of a folate trap syndrome in a woman attending an assisted reproduction program.Journal of assisted reproduction and genetics · 2023Article
- Genetic Aspects of Micronutrients Important for Inflammatory Bowel Disease.Life (Basel, Switzerland) · 2022Review
- T677T Methylenetetrahydrofolate Reductase Single Nucleotide Polymorphisms Increased Prevalence in a Subgroup of Infertile Patients with Endometriosis.Journal of women's health (2002) · 2022Article
- Active Folate Versus Folic Acid: The Role of 5-MTHF (Methylfolate) in Human Health.Integrative medicine (Encinitas, Calif.) · 2022Article
- Role of metabolizing MTHFR gene polymorphism (rs1801133) and its mRNA expression among Type 2 Diabetes.Journal of diabetes and metabolic disorders · 2022Article
- MTHFR 677TT is associated with decreased number of embryos and cumulative live birth rate in patients undergoing GnRHa short protocol: a retrospective study.BMC pregnancy and childbirth · 2022Article
- Folic Acid, Folinic Acid, 5 Methyl TetraHydroFolate Supplementation for Mutations That Affect Epigenesis through the Folate and One-Carbon Cycles.Biomolecules · 2022Review
- Article
- C677T Gene Polymorphism of MTHFR Is a Risk Factor for Impaired Renal Function in Pregnant Women With Preeclampsia in the Chinese Han Population.Frontiers in cardiovascular medicine · 2022Article
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Authors and funding
20 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeMTHFR, one of the major enzymes in the folate cycle, is known to acquire single-nucleotide polymorphisms that significantly reduce its activity, resulting in an increase in circulating homocysteine. Methylation processes are of crucial importance in gametogenesis, involved in the regulation of imprinting and epigenetic tags on DNA and histones. We have retrospectively assessed the prevalence of MTHFR SNPs in a population consulting for infertility according to gender and studied the impact of the mutations on circulating homocysteine levels.
methodsMore than 2900 patients having suffered at least two miscarriages (2 to 9) or two failed IVF/ICSI (2 to 10) attempts were included for analysis of MTHFR SNPs C677T and A1298C. Serum homocysteine levels were measured simultaneously.
resultsWe observed no difference in the prevalence of different genetic backgrounds between men and women; only 15% of the patients were found to be wild type. More than 40% of the patients are either homozygous for one SNP or compound heterozygous carriers. As expected, the C677T SNP shows the greatest adverse effect on homocysteine accumulation. The impact of MTHFR SNPs on circulating homocysteine is different in men than in women.
conclusionsDetermination of MTHFR SNPs in both men and women must be seriously advocated in the presence of long-standing infertility; male gametes, from MTHFR SNPs carriers, are not exempted from exerting a hazardous impact on fertility. Patients should be informed of the pleiotropic medical implications of these SNPs for their own health, as well as for the health of future children.
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