ArticleBirth defects research. Part A, Clinical and molecular teratology2012
Association of copper-zinc superoxide dismutase (SOD1) and manganese superoxide dismutase (SOD2) genes with nonsyndromic myelomeningocele.
Article in Birth defects research. Part A, Clinical and molecular teratology, 2012. 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 16 papers.
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Who cites it
16 citing papers in PubMed, 25 citations in OpenAlex.
- Spina bifida as a multifactorial birth defect: Risk factors and genetic underpinnings.Pediatric discovery · 2025Review
- The interaction between the gene SOD1 rs2070424 and the plasma zinc/copper ratio predicts renal function impairment.Frontiers in nutrition · 2025Article
- Bayesian polygenic risk estimation approach to nuclear families with discordant sib-pairs for myelomeningocele.PloS one · 2024Article
- Differentiated Embryonic Neurospheres from Familial Alzheimer's Disease Model Show Innate Immune and Glial Cell Responses.Stem cell reviews and reports · 2023Article
- The Quality of Life of Children with Myelomeningocele: A Cross-Sectional Preliminary Study.International journal of environmental research and public health · 2021Article
- Innovative approach to identify multigenomic and environmental interactions associated with birth defects in family-based hybrid designs.Genetic epidemiology · 2021Article
- Variability of the Genes Involved in the Cellular Redox Status and Their Implication in Drug Hypersensitivity Reactions.Antioxidants (Basel, Switzerland) · 2021Review
- Identification of the Key Regulators of Spina Bifida Through Graph-Theoretical Approach.Frontiers in genetics · 2021Article
- Interactions between plasma copper concentrations and SOD1 gene polymorphism for impaired glucose regulation and type 2 diabetes.Redox biology · 2019Article
- Genetic polymorphisms of antioxidant enzymes CAT and SOD affect the outcome of clinical, biochemical, and anthropometric variables in people with obesity under a dietary intervention.Genes & nutrition · 2018Article
- Influence of a 50bp Ins/Del polymorphism at promoter of the superoxide dismutase-1 on gene expression and risk of heroin dependency.Environmental health and preventive medicine · 2017Article
- Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans.Scientifica · 2017Review
- Superoxide Dismutase Gene (SOD1, SOD2, and SOD3) Polymorphisms and Antituberculosis Drug-induced Hepatitis.Allergy, asthma & immunology research · 2015Article
- Adenosine monophosphate-activated protein kinase activation enhances embryonic neural stem cell apoptosis in a mouse model of amyotrophic lateral sclerosis.Neural regeneration research · 2014Article
- Neural tube defects.Annual review of neuroscience · 2014Review
- Novel single nucleotide polymorphisms in the superoxide dismutase 1 and 2 genes among children with myelomeningocele.American journal of obstetrics and gynecology · 2013Article
Corrections and comments
- Erratum issued
Authors and funding
9 authors at 6 institutions in 1 country.
Funding
Abstract
backgroundA common and severe neural tube defect (NTD) phenotype, myelomeningocele (MM), results from the defective closure of the caudal end of the neural tube with herniation of the spinal cord and meninges through the vertebral column. The exact mechanisms for NTDs are unknown, but excessive oxidative stress, particularly in association with maternal diabetes, has been postulated as a mechanism for MM.
methodsThe SNPlex Genotyping (ABI, Foster City, CA) platform was used to investigate single nucleotide polymorphisms (SNPs) across the superoxide dismutase (SOD) 1 and 2 genes to assess their association with MM risk. The study population included 329 trio (affected child and both parents) and 281 duo (affected child and one parent) families. Only cases with documented MM were studied. Seventeen SNPs across the SOD1 and SOD2 genes met the quality-control criteria to be considered for statistical analysis. Genetic association was assessed using the family-based transmission disequilibrium test in PLINK (a genome association analysis toolset).
resultsFour SNPs in the SOD1 gene (rs 202446, rs202447, rs4816405, and rs2070424) and one SNP in the SOD2 gene ( rs5746105) [corrected] appeared to be associated with MM risk in our population. After adjusting for multiple testing, these SNPs remained significant.
conclusionThis study provides the first genetic evidence to support association of myelomeningocele with superoxide scavenging. The rare alleles of the five specific SNPs within SOD1 and SOD2 appear to confer a protective effect on the susceptibility for MM risk in the MM population tested. Further evaluation of the roles of superoxide scavenging and neural tube development is warranted.
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