ReviewBirth defects research. Part A, Clinical and molecular teratology2009
The search for genetic polymorphisms in the homocysteine/folate pathway that contribute to the etiology of human neural tube defects.
Review in Birth defects research. Part A, Clinical and molecular teratology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 2 of them syntheses that pooled 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.
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.
Who cites it
29 citing papers in PubMed, 2 syntheses or guidelines pooled it, 86 citations in OpenAlex.
- MTHFD1 polymorphism as maternal risk for neural tube defects: a meta-analysis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2015Pooled it
- Genetic variants in the folate pathway and the risk of neural tube defects: a meta-analysis of the published literature.PloS one · 2013Pooled it
- Trial
- Folate Pathway Gene Single Nucleotide Polymorphisms and Neural Tube Defects: A Systematic Review and Meta-Analysis.Journal of personalized medicine · 2022Review
- Association of MTHFD1 gene polymorphisms and maternal smoking with risk of congenital heart disease: a hospital-based case-control study.BMC pregnancy and childbirth · 2022Article
- Colorimetric detection of individual biothiols by tailor made reactions with silver nanoprisms.Scientific reports · 2021Article
- Impact of Early Nutrition, Physical Activity and Sleep on the Fetal Programming of Disease in the Pregnancy: A Narrative Review.Nutrients · 2020Review
- Magnitude and Associated Factors of Neural Tube Defects in Ethiopia: A Systematic Review and Meta-Analysis.Global pediatric health · 2020Review
- Hyperhomocysteinemia in men with a reproductive history of fetal neural tube defects: Three case reports and literature review.Medicine · 2019Article
- Should vitamin BAnnals of the New York Academy of Sciences · 2018Review
- What if it was easier to prevent schizophrenia than to treat it?NPJ schizophrenia · 2017Article
- Sonic Hedgehog Signaling Affected by Promoter Hypermethylation Induces Aberrant Gli2 Expression in Spina Bifida.Molecular neurobiology · 2016Article
- Association between chromosomal aberration of COX8C and tethered spinal cord syndrome: array-based comparative genomic hybridization analysis.Neural regeneration research · 2016Article
- Micronutrient deficiencies in pregnancy worldwide: health effects and prevention.Nature reviews. Endocrinology · 2016Review
- Heme oxygenase-1 promoter polymorphisms and risk of spina bifida.Birth defects research. Part A, Clinical and molecular teratology · 2015Article
- Folic acid supplementation in pregnancy and implications in health and disease.Journal of biomedical science · 2014Review
- Is low iron status a risk factor for neural tube defects?Birth defects research. Part A, Clinical and molecular teratology · 2014Article
- The maternal folate hydrolase gene polymorphism is associated with neural tube defects in a high-risk Chinese population.Genes & nutrition · 2013Article
- The continuing challenge of understanding, preventing, and treating neural tube defects.Science (New York, N.Y.) · 2013Review
- Folate-related gene variants in Irish families affected by neural tube defects.Frontiers in genetics · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
Abstract
In this paper, we trace the history of current research into the genetic and biochemical mechanisms that underlie folate-preventable neural tube defects (NTDs). The inspired suggestion by Smithells that common vitamins might prevent NTDs ignited a decade of biochemical investigations-first exploring the nutritional and metabolic factors related to NTDs, then onto the hunt for NTD genes. Although NTDs were known to have a strong genetic component, the concept of common genetic variance being linked to disease risk was relatively novel in 1995, when the first folate-related polymorphism associated with NTDs was discovered. The realization that more genes must be involved started a rush to find polymorphic needles in genetic haystacks. Early efforts entailed the intellectually challenging and time-consuming task of identifying and analyzing candidate single nucleotide polymorphisms (SNPs) in folate pathway genes. Luckily, human genome research has developed rapidly, and the search for the genetic factors that contribute to the etiology of human NTDs has evolved to mirror the increased level of knowledge and data available on the human genome. Large-scale candidate gene analysis and genome-wide association studies are now readily available. With the technical hurdles removed, the remaining challenge is to gather a sample large enough to uncover the polymorphisms that contribute to NTD risk. In some respects the real work is beginning. Although moving forward is exciting, it is humbling that the most important result-prevention of NTDs by maternal folic acid supplementation-was achieved years ago, the direct result of Smithells' groundbreaking studies.
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What OpenQuestion holds
Registered trials
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.