ArticleJournal of medical genetics2010
Transcobalamin II receptor polymorphisms are associated with increased risk for neural tube defects.
Article in Journal of medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 20 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.
- Beyond Folate: The Emerging Role of Maternal Vitamin B12 in Neural Tube Development.Nutrients · 2025Pooled it
- Influence of Transcobalamin II (TCN2) and its receptor (CD320) gene polymorphisms on circulating TCN2 and CD320 levels in individuals with vitamin B12 deficiency.Irish journal of medical science · 2025Article
- Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.American journal of medical genetics. Part A · 2022Article
- The Role of Brain Barriers in Maintaining Brain Vitamin Levels.Annual review of nutrition · 2019Review
- Mice lacking the transcobalamin-vitamin B12 receptor, CD320, suffer from anemia and reproductive deficits when fed vitamin B12-deficient diet.Human molecular genetics · 2018Article
- Transcellular transport of cobalamin in aortic endothelial cells.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2018Article
- Should vitamin BAnnals of the New York Academy of Sciences · 2018Review
- The FUT2 secretor variant p.Trp154Ter influences serum vitamin B12 concentration via holo-haptocorrin, but not holo-transcobalamin, and is associated with haptocorrin glycosylation.Human molecular genetics · 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
- Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects.BMC medical genetics · 2014Article
- Concept mapping One-Carbon Metabolism to model future ontologies for nutrient-gene-phenotype interactions.Genes & nutrition · 2014Article
- Approaches for the identification of genetic modifiers of nutrient dependent phenotypes: examples from folate.Frontiers in nutrition · 2014Review
- Review
- Review
- Association of SMO polymorphisms and neural tube defects in the Chinese population from Shanxi Province.International journal of clinical and experimental medicine · 2013Article
- Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects.BMC medical genetics · 2012Article
- Folate and vitamin B12-related genes and risk for omphalocele.Human genetics · 2012Article
- Folate and vitamin B12 in idiopathic male infertility.Asian journal of andrology · 2011Article
- Bioinformatic and genetic association analysis of microRNA target sites in one-carbon metabolism genes.PloS one · 2011Article
- Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population.American journal of medical genetics. Part A · 2011Article
Corrections and comments
- Erratum issued
Authors and funding
13 authors at 6 institutions in 2 countries.
Funding
Abstract
objectiveWomen who have low cobalamin (vitamin B(12)) levels are at increased risk for having children with neural tube defects (NTDs). The transcobalamin II receptor (TCblR) mediates uptake of cobalamin into cells. Inherited variants in the TCblR gene as NTD risk factors were evaluated.
methodsCase-control and family-based tests of association were used to screen common variation in TCblR as genetic risk factors for NTDs in a large Irish group. A confirmatory group of NTD triads was used to test positive findings.
results2 tightly linked variants associated with NTDs in a recessive model were found: TCblR rs2336573 (G220R; p(corr)=0.0080, corrected for multiple hypothesis testing) and TCblR rs9426 (p(corr)=0.0279). These variants were also associated with NTDs in a family-based test before multiple test correction (log-linear analysis of a recessive model: rs2336573 (G220R; RR=6.59, p=0.0037) and rs9426 (RR=6.71, p=0.0035)). A copy number variant distal to TCblR and two previously unreported exonic insertion-deletion polymorphisms were described.
conclusionsTCblR rs2336573 (G220R) and TCblR rs9426 represent a significant risk factor in NTD cases in the Irish population. The homozygous risk genotype was not detected in nearly 1000 controls, indicating that this NTD risk factor may be of low frequency and high penetrance. 9 other variants are in perfect linkage disequilibrium with the associated single nucleotide polymorphisms. Additional work is required to identify the disease-causing variant. Our data suggest that variation in TCblR plays a role in NTD risk and that these variants may modulate cobalamin metabolism.
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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.