ArticleBirth defects research. Part A, Clinical and molecular teratology2010
Association of folate receptor (FOLR1, FOLR2, FOLR3) and reduced folate carrier (SLC19A1) genes with meningomyelocele.
Article in Birth defects research. Part A, Clinical and molecular teratology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 45 citations in OpenAlex.
- Monocyte gene expression signature of patients with early onset coronary artery disease.PloS one · 2012Trial
- Study on the expression level of folate receptor γ in thyroid cancer and its association with clinicopathological characteristics.Oncology letters · 2026Article
- Genetic variation in macrophage-restricted FOLR2 is associated with neurodevelopmental and reproductive immune phenotypes.Frontiers in immunology · 2026Article
- Preconceptional and Periconceptional Folic Acid Supplementation in the Visegrad Group Countries for the Prevention of Neural Tube Defects.Nutrients · 2024Review
- Unveiling the Therapeutic Potential of Folate-Dependent One-Carbon Metabolism in Cancer and Neurodegeneration.International journal of molecular sciences · 2024Review
- 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
- Diet Alters Micronutrient Pathways in the Gut and Placenta that Regulate Fetal Growth and Development in Pregnant Mice.Reproductive sciences (Thousand Oaks, Calif.) · 2021Article
- Identification of the Key Regulators of Spina Bifida Through Graph-Theoretical Approach.Frontiers in genetics · 2021Article
- Plasma Homocysteine Concentration is Associated with the Expression Level of Folate Receptor 3.Scientific reports · 2020Observational
- Epigenome-wide analysis of common warts reveals aberrant promoter methylation.International journal of medical sciences · 2020Article
- Folic acid deficiency and vision: a review.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2019Review
- Insights into the Etiology of Mammalian Neural Tube Closure Defects from Developmental, Genetic and Evolutionary Studies.Journal of developmental biology · 2018Review
- Folate action in nervous system development and disease.Developmental neurobiology · 2018Review
- Folic Acid Exposure Rescues Spina Bifida Aperta Phenotypes in Human Induced Pluripotent Stem Cell Model.Scientific reports · 2018Article
- Single nucleotide polymorphisms in candidate genes associated with milk yield in Argentinean Holstein and Holstein x Jersey cows.Journal of animal science and technology · 2018Article
- Mutations in folate transporter genes and risk for human myelomeningocele.American journal of medical genetics. Part A · 2017Article
- Finding the genetic mechanisms of folate deficiency and neural tube defects-Leaving no stone unturned.American journal of medical genetics. Part A · 2017Review
- Folate receptor 1 is necessary for neural plate cell apical constriction duringDevelopment (Cambridge, England) · 2017Article
- Evaluation of proton-coupled folate transporter (SLC46A1) polymorphisms as risk factors for neural tube defects and oral clefts.American journal of medical genetics. Part A · 2016Article
Corrections and comments
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Authors and funding
9 authors at 6 institutions in 2 countries.
Funding
Abstract
backgroundMeningomyelocele (MM) results from lack of closure of the neural tube during embryologic development. Periconceptional folic acid supplementation is a modifier of MM risk in humans, leading toan interest in the folate transport genes as potential candidates for association to MM.
methodsThis study used the SNPlex Genotyping (ABI, Foster City, CA) platform to genotype 20 single polymorphic variants across the folate receptor genes (FOLR1, FOLR2, FOLR3) and the folate carrier gene (SLC19A1) to assess their association to MM. The study population included 329 trio and 281 duo families. Only cases with MM were included. Genetic association was assessed using the transmission disequilibrium test in PLINK.
resultsA variant in the FOLR2 gene (rs13908), three linked variants in the FOLR3 gene (rs7925545, rs7926875, rs7926987), and two variants in the SLC19A1 gene (rs1888530 and rs3788200) were statistically significant for association to MM in our population.
conclusionThis study involved the analyses of selected single nucleotide polymorphisms across the folate receptor genes and the folate carrier gene in a large population sample. It provided evidence that the rare alleles of specific single nucleotide polymorphisms within these genes appear to be statistically significant for association to MM in the patient population that was tested.
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