Genetic Basis of Neural Tube Defects

Copp, Andrew J.; Stanier, Philip; Greene, Nicholas D. E.

doi:10.1007/978-3-319-72168-2_105

Cited by 4 publications

(2 citation statements)

References 97 publications

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“…This could be associated with a genetic basis for NTDs. 56,57 Besides, unplanned pregnancy is one risk factor that contributes to the development of NTDs and could be due to inadequate intake of folic acid secondary to lack of follow-up in an antenatal program in Ethiopia where iron and folate is supplemented. Moreover, one study 20 reported that lower dietary diversity score in the mother was a risk factor for the development of NTDs.…”

Section: Discussionmentioning

confidence: 99%

Magnitude and Associated Factors of Neural Tube Defects in Ethiopia: A Systematic Review and Meta-Analysis

Bitew

Worku

Alebel

et al. 2020

Global Pediatric Health

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Neural tube defects remain a major problem in developing countries, but there are limited comprehensive national reports to date in Ethiopia. Therefore, this study aimed to assess the prevalence of neural tube defects and associated factors in Ethiopia. Electronic databases and other sources were used to retrieve studies. Fifteen out of 862 studies were included in the final analysis. The estimated pooled prevalence of neural tube defects among children in Ethiopia was 63.3 cases per 10 000 children. The pooled prevalence of spinal bifida, anencephaly, and encephalocele was 41.09, 18.90, and 1.07 per 10 000 children, respectively. Previous family history and unplanned pregnancy were risk factors for neural tube defects. Folic acid supplementation during the first trimester of pregnancy was found to be protective. Neural tube defects are widespread in Ethiopia. Hence, fortification of food with folic acid or folic acid supplementation during childbearing age is recommended.

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Section: Discussionmentioning

confidence: 99%

Magnitude and Associated Factors of Neural Tube Defects in Ethiopia: A Systematic Review and Meta-Analysis

Bitew

Worku

Alebel

et al. 2020

Global Pediatric Health

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“…Neural tube defects (NTDs) are among the most prevalent congenital anomalies, affecting around 19 per 10,000 livebirths globally 1,2 . Complex genetic and environmental contributions underly around 75% of NTDs, which have multifactorial causation 3,4 and can associate with multiple comorbidities, including placental maldevelopment and function 5 , fetal growth restriction 6 and preterm birth 7 . Nutritional factors have a wellrecognised contribution to the etiology of isolated NTDs, namely folate and vitamin B12 8 , and to a lesser extent, inositol 9 , vitamin D 10 , choline 11 and essential trace elements 12,13 .…”

Section: Introductionmentioning

confidence: 99%

Identification of novel nutrient-sensitive gene regulatory networks in amniocytes from fetuses with spina bifida

White

Arif-Pardy

Connor

2022

Preprint

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Background: Neural tube defects (NTDs) remain among the most common congenital anomalies. Contributing risk factors include genetics and nutrient deficiencies, however, a comprehensive assessment of nutrient-gene interactions in NTDs is lacking. We hypothesised that multiple nutrient-gene interactions would be evident in NTD-associated gene signatures. Methods: We applied a novel, nutrient-focused gene expression analysis pipeline to identify nutrient-sensitive gene regulatory networks in amniocyte gene expression data (GSE4182) from fetuses with NTDs (cases; n=3) and fetuses with no congenital anomalies (controls; n=5). Differentially expressed genes (DEGs) were identified and screened for having nutrient cofactors. Transcription factors (TFs) with nutrient cofactors that regulated DEGs, and nutrient-sensitive miRNAs that had a previous link to NTDs, were identified and used to construct DEG regulatory networks. Results: Of the 880 DEGs in cases (vs. controls), 10% had at least one nutrient cofactor. DEG regulatory network analysis revealed that 39% and 52% of DEGs in cases were regulated by 22 nutrient-sensitive miRNAs and 10 nutrient-dependent TFs, respectively. Zinc- and B vitamin- dependent genes and gene regulatory networks (Zinc: 10 TFs targeting 50.6% of DEGs; B vitamins: 4 TFs [targeting 37.7% of DEGs], 9 miRNAs [targeting 17.6% of DEGs]) were dysregulated in cases. Two nutrient-dependent TFs predicted to target DEGs in cases (Tumor Protein 63 and Churchill Domain Containing 1) have not been previously linked to NTDs. Conclusions: We identified multiple novel nutrient-sensitive gene regulatory networks associated with NTDs, which may relate to NTD pathogenesis, and indicate new targets to explore for NTD prevention or to optimise fetal development.

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Association between the MTHFR (rs1801133) gene variation and serum trace elements levels (Copper and Zinc) in individuals diagnosed with neural tube defects

Singh,

Choudhary,

Rai

et al. 2024

Clinica Chimica Acta

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Genetic Basis of Neural Tube Defects

Cited by 4 publications

References 97 publications

Magnitude and Associated Factors of Neural Tube Defects in Ethiopia: A Systematic Review and Meta-Analysis

Magnitude and Associated Factors of Neural Tube Defects in Ethiopia: A Systematic Review and Meta-Analysis

Identification of novel nutrient-sensitive gene regulatory networks in amniocytes from fetuses with spina bifida

Association between the MTHFR (rs1801133) gene variation and serum trace elements levels (Copper and Zinc) in individuals diagnosed with neural tube defects

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