ArticleBMC medical genetics2009
118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
Article in BMC medical genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 100 papers, 8 of them syntheses that pooled it.
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Who cites it
100 citing papers in PubMed, 8 syntheses or guidelines pooled it, 176 citations in OpenAlex.
- Association of MTHFD1 G1958A (rs2236225) gene polymorphism with the risk of congenital heart disease: a systematic review and meta-analysis.BMC medical genomics · 2025Pooled it
- Association between MTR A2756G polymorphism and susceptibility to congenital heart disease: A meta-analysis.PloS one · 2022Pooled it
- Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.Circulation. Cardiovascular genetics · 2017Pooled it
- Association between MTHFR polymorphisms and congenital heart disease: a meta-analysis based on 9,329 cases and 15,076 controls.Scientific reports · 2014Pooled it
- Association between methionine synthase reductase A66G polymorphism and the risk of congenital heart defects: evidence from eight case-control studies.Pediatric cardiology · 2014Pooled it
- Genetic variant in MTRR, but not MTR, is associated with risk of congenital heart disease: an integrated meta-analysis.PloS one · 2014Pooled it
- Association between MTHFD1 G1958A polymorphism and neural tube defects susceptibility: a meta-analysis.PloS one · 2014Pooled it
- No association of functional polymorphisms in methlylenetetrahydrofolate reductase and the risk and minor physical anomalies of schizophrenia in Korean population.Journal of Korean medical science · 2011Pooled it
- 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
- Haplotype analysis of the folate-related genes MTHFR, MTRR, and MTR and migraine with aura.Cephalalgia : an international journal of headache · 2013Trial
- Analysis of MTR and MTRR Gene Polymorphisms in Chinese Patients With Ventricular Septal Defect.Applied immunohistochemistry & molecular morphology : AIMMTrial
- Brain B Vitamin Status and One-Carbon Metabolism Gene Polymorphisms are Associated with Cognitive Impairment in Alzheimer's and Parkinson's Disease.bioRxiv : the preprint server for biology · 2026Article
- Emerging Functional Connections Between Metabolism and Epigenetic Remodeling in Neural Differentiation.Molecular neurobiology · 2024Review
- Review
- Exploring research hotspots and future directions in neural tube defects field by bibliometric and bioinformatics analysis.Frontiers in neuroscience · 2024Article
- Exencephaly-Anencephaly Sequence Associated with Maxillary Brachygnathia, Spinal Defects, and Palatoschisis in a Male Domestic Cat.Animals : an open access journal from MDPI · 2023Article
- Association of Maternal Folate Intake and Offspring MTHFD1 and MTHFD2 Genes with Congenital Heart Disease.Nutrients · 2023Article
- Association of MTR gene polymorphisms with the occurrence of non-syndromic congenital heart disease: a case-control study.Scientific reports · 2023Article
- 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 and Interaction Effect ofNutrients · 2022Article
40 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundFolic acid taken in early pregnancy reduces risks for delivering offspring with several congenital anomalies. The mechanism by which folic acid reduces risk is unknown. Investigations into genetic variation that influences transport and metabolism of folate will help fill this data gap. We focused on 118 SNPs involved in folate transport and metabolism.
methodsUsing data from a California population-based registry, we investigated whether risks of spina bifida or conotruncal heart defects were influenced by 118 single nucleotide polymorphisms (SNPs) associated with the complex folate pathway. This case-control study included 259 infants with spina bifida and a random sample of 359 nonmalformed control infants born during 1983-86 or 1994-95. It also included 214 infants with conotruncal heart defects born during 1983-86. Infant genotyping was performed blinded to case or control status using a designed SNPlex assay. We examined single SNP effects for each of the 118 SNPs, as well as haplotypes, for each of the two outcomes.
resultsFew odds ratios (ORs) revealed sizable departures from 1.0. With respect to spina bifida, we observed ORs with 95% confidence intervals that did not include 1.0 for the following SNPs (heterozygous or homozygous) relative to the reference genotype: BHMT (rs3733890) OR = 1.8 (1.1-3.1), CBS (rs2851391) OR = 2.0 (1.2-3.1); CBS (rs234713) OR = 2.9 (1.3-6.7); MTHFD1 (rs2236224) OR = 1.7 (1.1-2.7); MTHFD1 (hcv11462908) OR = 0.2 (0-0.9); MTHFD2 (rs702465) OR = 0.6 (0.4-0.9); MTHFD2 (rs7571842) OR = 0.6 (0.4-0.9); MTHFR (rs1801133) OR = 2.0 (1.2-3.1); MTRR (rs162036) OR = 3.0 (1.5-5.9); MTRR (rs10380) OR = 3.4 (1.6-7.1); MTRR (rs1801394) OR = 0.7 (0.5-0.9); MTRR (rs9332) OR = 2.7 (1.3-5.3); TYMS (rs2847149) OR = 2.2 (1.4-3.5); TYMS (rs1001761) OR = 2.4 (1.5-3.8); and TYMS (rs502396) OR = 2.1 (1.3-3.3). However, multiple SNPs observed for a given gene showed evidence of linkage disequilibrium indicating that the observed SNPs were not individually contributing to risk. We did not observe any ORs with confidence intervals that did not include 1.0 for any of the studied SNPs with conotruncal heart defects. Haplotype reconstruction showed statistical evidence of nonrandom associations with TYMS, MTHFR, BHMT and MTR for spina bifida.
conclusionOur observations do not implicate a particular folate transport or metabolism gene to be strongly associated with risks for spina bifida or conotruncal defects.
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