ArticleEnvironmental health perspectives2006
Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.
Article in Environmental health perspectives, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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Who cites it
49 citing papers in PubMed, 134 citations in OpenAlex.
- Genetic impairments in folate enzymes increase dependence on dietary choline for phosphatidylcholine production at the expense of betaine synthesis.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2016Trial
- Fundamental origins of neural tube defects with a basis in genetics and nutrition.Experimental brain research · 2025Review
- Determinants of neural tube defects among newborns in public referral hospitals in Eastern Ethiopia.BMC nutrition · 2023Article
- Profiling the Influence of Gene Variants Related to Folate-Mediated One-Carbon Metabolism on the Outcome of In Vitro Fertilization (IVF) with Donor Oocytes in Recipients Receiving Folic Acid Fortification.International journal of molecular sciences · 2022Article
- Association of polymorphisms of FOLR1 gene and FOLR2 gene and maternal folic acid supplementation with risk of ventricular septal defect: a case-control study.European journal of clinical nutrition · 2022Article
- Association of periconceptional folate supplements andZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2022Article
- Article
- NAD deficiency due to environmental factors or gene-environment interactions causes congenital malformations and miscarriage in mice.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Sex differences in hepatic one-carbon metabolism.BMC systems biology · 2018Article
- Association of neural tube defects with gene polymorphisms in one-carbon metabolic pathway.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2018Article
- Should vitamin BAnnals of the New York Academy of Sciences · 2018Review
- Mutations in folate transporter genes and risk for human myelomeningocele.American journal of medical genetics. Part A · 2017Article
- Epigenomic Landscapes of hESC-Derived Neural Rosettes: Modeling Neural Tube Formation and Diseases.Cell reports · 2017Article
- Acute lymphoblastic leukemia and genetic variations in BHMT gene: Case-control study and computational characterization.Cancer biomarkers : section A of Disease markers · 2017Article
- Genetic Variation in Choline-Metabolizing Enzymes Alters Choline Metabolism in Young Women Consuming Choline Intakes Meeting Current Recommendations.International journal of molecular sciences · 2017Article
- Choline metabolic pathway gene polymorphisms and risk for Down syndrome: An association study in a population with folate-homocysteine metabolic impairment.European journal of clinical nutrition · 2017Article
- Improvement of gamete quality by stimulating and feeding the endogenous antioxidant system: mechanisms, clinical results, insights on gene-environment interactions and the role of diet.Journal of assisted reproduction and genetics · 2016Review
- Review
- Maternal Folate Status and the BHMT c.716G>A Polymorphism Affect the Betaine Dimethylglycine Pathway during Pregnancy.Nutrients · 2016Article
- Risk factors of neural tube defects in northern iran.Iranian Red Crescent medical journal · 2014Article
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundFolate metabolism pathway genes have been examined for association with neural tube defects (NTDs) because folic acid supplementation reduces the risk of this debilitating birth defect. Most studies addressed these genes individually, often with different populations providing conflicting results.
objectivesOur study evaluates several folate pathway genes for association with human NTDs, incorporating an environmental cofactor: maternal folate supplementation.
methodsIn 304 Caucasian American NTD families with myelomeningocele or anencephaly, we examined 28 polymorphisms in 11 genes: folate receptor 1, folate receptor 2, solute carrier family 19 member 1, transcobalamin II, methylenetetrahydrofolate dehydrogenase 1, serine hydroxymethyl-transferase 1, 5,10-methylenetetrahydrofolate reductase (MTHFR), 5-methyltetrahydrofolate-homo-cysteine methyltransferase, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase, betaine-homocysteine methyltransferase (BHMT), and cystathionine-beta-synthase.
resultsOnly single nucleotide polymorphisms (SNPs) in BHMT were significantly associated in the overall data set; this significance was strongest when mothers took folate-containing nutritional supplements before conception. The BHMT SNP rs3733890 was more significant when the data were stratified by preferential transmission of the MTHFR rs1801133 thermolabile T allele from parent to offspring. Other SNPs in folate pathway genes were marginally significant in some analyses when stratified by maternal supplementation, MTHFR, or BHMT allele transmission.
conclusionsBHMT rs3733890 is significantly associated in our data set, whereas MTHFR rs1801133 is not a major risk factor. Further investigation of folate and methionine cycle genes will require extensive SNP genotyping and/or resequencing to identify novel variants, inclusion of environmental factors, and investigation of gene-gene interactions in large data sets.
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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.