Effect on risk of anencephaly of gene–nutrient interactions between methylenetetrahydrofolate reductase C677T polymorphism and maternal folate, vitamin B12and homocysteine profile
Open accessAbstract
Objective: To evaluate the effects on anencephaly risk of the interaction between the maternal profile of folate, vitamin B 12 and homocysteine and the 677C→T polymorphism in the gene encoding methylenetetrahydrofolate reductase (MTHFR). Design: Case–control study paired (1:1) on maternity clinic, date of birth and state of residence. Cases of anencephaly were identified using the Registry of the Mexican Neural Tube Defect Epidemiological Surveillance System. Case and control mothers were selected from the same maternity departments. All mothers completed a structured questionnaire and blood samples were obtained to determine the MTHFR 677C→T polymorphism and biochemical profile. Setting: Mexico, Puebla and Guerrero states, Mexico. Subjects: A total of 151 mothers of cases and controls were enrolled from March 2000 to February 2001. We had complete information on biochemical profile and MTHFR C677T polymorphism for ninety-eight mothers of cases and ninety-one mothers of controls. Results: The adjusted models show that the risk of anencephaly in mothers with 677TT genotype was reduced by 18 % (OR = 0·82; 95 % CI 0·72, 0·94) for each 1 ng/ml increment in serum folate. In terms of tertiles, mothers with 677TT genotype with serum folate levels in the upper tertile (>14·1 ng/ml) had a 95 % lower risk to have a child with anencephaly than mothers with serum folate levels in the first and second tertiles (P trend = 0·012). Conclusions: Our data agree with the hypothesis of a gene–nutrient interaction between MTHFR 677C→T polymorphism and folate status. We observed a protective effect on anencephaly risk only in mothers with 677TT genotype as serum folate levels increased.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Polymorphisms in MTHFR affect folate metabolism and influence neural development and psychological resilience.
“Similarly, polymorphisms in MTHFR, which affect folate metabolism, influence neural development and psychological resilience97.”
From Resilience and brain health in global populations (2025) · cites this paper as [97]
The paper’s background passages describe MTHFR polymorphisms as reducing enzyme activity involved in folate metabolism and report an association with neural tube defects. Its conclusion addresses maternal folate status and anencephaly risk, a specific developmental outcome. Neither those passages nor the additional search addresses psychological resilience; page numbers were not available in our copy. (LLM, conf=0.88)
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Neural tube defects and folate: case far from closed
Blom, H. J., Shaw, G. M., den Heijer, M., & Finnell, R. H. (2006) · Nature Reviews Neuroscience · doi:10.1038/nrn1986 · Cited by 562 · see citing works
Flagged first, then by citations
Research works printed but not linked: 5
- Blatter BM, Van der Star M & Roeleveld N (1994) Review of neural tube defects: risk factors in parental occupation and the environment. Environ Health Perspect 102, 140-145.
- Botto LD & Yang Q (2000) 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am J Epidemiol 151, 862-877.
- Willett WC (1998) Nutritional Epidemiology, 2nd ed. New York: Oxford University Press.
- Institute of Medicine (2002) Dietary Reference Intakes (DRI) for Thiamin, Riboflavin, Niacin, Vitamin B 6 , Folate, Vitamin B 12 , Pantothenic Acid, Biotin, and Choline. Washington, DC: National Academy Press.
- Elwood JM, Little J & Elwood JH (1992) Epidemiology and Control of Neural Tube Defects. Oxford: Oxford University Press.
Cited by
Sorted by citations
Resilience and brain health in global populations
Udeh-Momoh, C. T., Migeot, J., Blackmon, K., Mielke, M. M., Melloni, M., Cox, L., Yaffe, K., Santamaria-Garcia, H., Stern, Y., & Ibanez, A. (2025) · Nature Medicine · doi:10.1038/s41591-025-03846-w · Cited by 42 · see citing works
- Authors
- Lacasaña, M., Blanco-Muñoz, J., Borja-Aburto, V. H., Aguilar-Garduño, C., Rodríguez-Barranco, M., Sierra-Ramirez, J. A., Galaviz-Hernandez, C., Gonzalez-Alzaga, B., & Garcia-Cavazos, R.
- Affiliations
- Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública (ES)
- Mexican Social Security Institute (MX)
- Corresponding author
- Lacasaña, Marina
- Venue
- Public Health Nutrition
- Publisher
- Cambridge University Press (CUP)
- Published
- 2012-01-10
- Volume
- 15
- Issue
- 8
- Pages
- 1419-1428
- ISSN
- 1368-9800 (ISSN-L)
- 1475-2727
- OpenAlex
- W2060416526
- Cited by
- 29
- References
- 1
- Citations by year
- 2025: 4 · 2024: 1 · 2023: 1 · 2021: 1 · 2020: 4 · 2019: 2 · 2017: 2 · 2016: 1 · 2015: 8 · 2014: 3 · 2013: 1 · 2012: 1
- FWCI
- 3.18
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Public Health Nutrition (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Rheumatology › Folate and B Vitamins Research
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Spinal Dysraphism and Malformations
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- anencephaly, neural tube defects, MTHFR C677T polymorphism, methylenetetrahydrofolate reductase, gene-nutrient interactions, maternal serum folate, vitamin B12, homocysteine, folate status, genetic susceptibility
- MeSH terms
- Adult, Anencephaly, Female, Folic Acid, Genotype, Homocysteine, Humans, Infant, Mexico, Polymorphism, Genetic, Pregnancy, Surveys and Questionnaires, Risk Factors, Vitamin B Complex, Vitamin B 12, Case-Control Studies, Methylenetetrahydrofolate Reductase (NADPH2)
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
