Evidence map›Paper›PMID 27068821›Full record

ArticleHuman genetics2016

Polymorphisms in the MTHFR gene influence embryo viability and the incidence of aneuploidy.

María Enciso, Jonás Sarasa, Leoni Xanthopoulou, Sara Bristow, Megan Bowles, Elpida Fragouli, Joy Delhanty, Dagan Wells

Abstract read
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In one paragraph

Article in Human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
41citing papers in PubMed, 3 pooled it
16.3field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

41 citing papers in PubMed, 3 syntheses or guidelines pooled it, 92 citations in OpenAlex.

  1. Pooled it
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  4. Association ofBiomedicines · 2026
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  6. Frontiers in reproductive health · 2026
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 4 institutions in 2 countries.

María EncisoNuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, UK. mariaencisolorences@gmail.com.
Jonás SarasaReprogenetics UK Ltd., Institute of Reproductive Sciences, Oxford, UK.
Leoni XanthopoulouPreimplantation Genetics Group, Institute for Women's Health, University College London, London, UK.
Sara BristowRecombine, New York, NY, USA.
Megan BowlesNuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, UK.
Elpida FragouliNuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, UK.
Joy DelhantyPreimplantation Genetics Group, Institute for Women's Health, University College London, London, UK.
Dagan WellsNuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, UK. dagan.wells@obs-gyn.ox.ac.uk.
University of Oxford · GBOxford Fertility · GBUniversity College London · GBRecombinetics (United States) · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

MTHFR is an important enzyme in the metabolism of folic acid and is crucial for reproductive function. Variation in the sequence of MTHFR has been implicated in subfertility, but definitive data are lacking. In the present study, a detailed analysis of two common MTHFR polymorphisms (c.677C>T and c.1298A>C) was performed. Additionally, for the first time, the frequencies of different MTHFR alleles were assessed in preimplantation embryos. Several striking discoveries were made. Firstly, results demonstrated that maternal MTHFR c.1298A>C genotype strongly influences the likelihood of a pregnancy occurring, with the 1298C allele being significantly overrepresented amongst women who have undergone several unsuccessful assisted reproductive treatments. Secondly, parental MTHFR genotypes were shown to affect the production of aneuploid embryos, indicating that MTHFR is one of the few known human genes with the capacity to modulate rates of chromosome abnormality. Thirdly, an unusual deviation from Hardy-Weinberg equilibrium was noted for the c.677C>T polymorphism in subfertile patients, especially those who had experienced recurrent failure of embryo implantation or miscarriage, potentially explained by a rare case of heterozygote disadvantage. Finally, a dramatic impact of the MTHFR 677T allele on the capacity of chromosomally normal embryos to implant is described. Not only do these findings raise a series of interesting biological questions, but they also argue that testing of MTHFR could be of great clinical value, identifying patients at high risk of implantation failure and revealing the most viable embryos during in vitro fertilisation (IVF) cycles.

Indexed as

AneuploidyAdultCohort StudiesEmbryonic DevelopmentEmbryo TransferFemaleFertilization in VitroHumansInfertilityMethylenetetrahydrofolate Reductase (NADPH2)Polymorphism, Single NucleotidePregnancyUnited KingdomMethylenetetrahydrofolate Reductase (NADPH2)MTHFR protein, human

Identifiers

PMID27068821
OpenAlexW2326860812

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.