ArticleAmerican journal of medical genetics. Part A2011
Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population.
Article in American journal of medical genetics. Part A, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 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.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Variants in MTHFR gene and neural tube defects susceptibility in China.Metabolic brain disease · 2015Pooled it
- Metabolic Analysis of Methylenetetrahydrofolate Reductase Single Nucleotide Polymorphisms (MTHFR 677C<T and MTHFR 1298A<C), Serum Folate and Vitamin B12 in Neural Tube Defects.Indian journal of clinical biochemistry : IJCB · 2023Article
- Early anteroposterior regionalisation of human neural crest is shaped by a pro-mesodermal factor.eLife · 2022Article
- Identification of the Key Regulators of Spina Bifida Through Graph-Theoretical Approach.Frontiers in genetics · 2021Article
- Association between rare variants in specific functional pathways and human neural tube defects multiple subphenotypes.Neural development · 2020Article
- Article
- Implications of DNA Methylation in Parkinson's Disease.Frontiers in molecular neuroscience · 2017Review
- Stage specific requirement of platelet-derived growth factor receptor-α in embryonic development.PloS one · 2017Article
- Association between ALDH1L1 gene polymorphism and neural tube defects in the Chinese Han population.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2016Article
- An FGF3-BMP Signaling Axis Regulates Caudal Neural Tube Closure, Neural Crest Specification and Anterior-Posterior Axis Extension.PLoS genetics · 2016Article
- Variants in maternal COMT and MTHFR genes and risk of neural tube defects in offspring.Metabolic brain disease · 2015Article
- Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects.BMC medical genetics · 2014Article
- Association between MTHFR gene polymorphism and NTDs in Chinese Han population.International journal of clinical and experimental medicine · 2014Article
- Family-based association study between SLC2A1, HK1, and LEPR polymorphisms with myelomeningocele in Chile.Reproductive sciences (Thousand Oaks, Calif.) · 2013Article
- Genetic association analyses of nitric oxide synthase genes and neural tube defects vary by phenotype.Birth defects research. Part B, Developmental and reproductive toxicology · 2013Article
- Exon sequencing of PAX3 and T (brachyury) in cases with spina bifida.Birth defects research. Part A, Clinical and molecular teratology · 2013Article
- Birth defects associated with perturbations in preimplantation, gastrulation, and axis extension: from conjoined twinning to caudal dysgenesis.Wiley interdisciplinary reviews. Developmental biology · 2013Review
- Association of SMO polymorphisms and neural tube defects in the Chinese population from Shanxi Province.International journal of clinical and experimental medicine · 2013Article
- Folate-related gene variants in Irish families affected by neural tube defects.Frontiers in genetics · 2013Article
- Diabetes and obesity-related genes and the risk of neural tube defects in the national birth defects prevention study.American journal of epidemiology · 2012Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
Abstract
Individual studies of the genetics of neural tube defects (NTDs) contain results on a small number of genes in each report. To identify genetic risk factors for NTDs, we evaluated potentially functional single nucleotide polymorphisms (SNPs) that are biologically plausible risk factors for NTDs but that have never been investigated for an association with NTDs, examined SNPs that previously showed no association with NTDs in published studies, and tried to confirm previously reported associations in folate-related and non-folate-related genes. We investigated 64 SNPs in 34 genes for association with spina bifida in up to 558 case families (520 cases, 507 mothers, 457 fathers) and 994 controls in Ireland. Case-control and mother-control comparisons of genotype frequencies, tests of transmission disequilibrium, and log-linear regression models were used to calculate effect estimates. Spina bifida was associated with over-transmission of the LEPR (leptin receptor) rs1805134 minor C allele [genotype relative risk (GRR): 1.5; 95% confidence interval (CI): 1.0-2.1; P = 0.0264] and the COMT (catechol-O-methyltransferase) rs737865 major T allele (GRR: 1.4; 95% CI: 1.1-2.0; P = 0.0206). After correcting for multiple comparisons, these individual test P-values exceeded 0.05. Consistent with previous reports, spina bifida was associated with MTHFR 677C>T, T (Brachyury) rs3127334, LEPR K109R, and PDGFRA promoter haplotype combinations. The associations between LEPR SNPs and spina bifida suggest a possible mechanism for the finding that obesity is a NTD risk factor. The association between a variant in COMT and spina bifida implicates methylation and epigenetics in NTDs.
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