Embryology of neural tube defects: information provided by associated malformations

Cabaret, A.-S.; Loget, Philippe; Lœuillet, Laurence; Odent, S.; Poulain, P.

doi:10.1002/pd.1771

Cited by 13 publications

(4 citation statements)

References 15 publications

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“…To analyze the correlation between PARD3 polymorphisms and NTD phenotypes, fetuses with the 2 most common NTD phenotypes (anencephaly and spina bifida) were collected. The classification methods used in this study were based on those devised by Cabaret et al 26 At last, 224 cases with NTDs and 253 nonmalformed controls were collected. Of the 224 NTD-affected fetuses, there were 149 cases with anencephaly, and 75 cases with spina bifida.…”

Section: Resultsmentioning

confidence: 99%

Association Study of PARD3 Gene Polymorphisms With Neural Tube Defects in a Chinese Han Population

et al. 2012

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Partitioning defective 3 homolog (PARD3) is an attractive candidate gene for screening neural tube defect (NTD) risk. To investigate the role of genetic variants in PARD3 on NTD risk, a case-control study was performed in a region of China with a high prevalence of NTDs. Total 53 single-nucleotide polymorphisms (SNPs) in PARD3 were genotyped in 224 fetuses with NTDs and in 253 normal fetuses. We found that 6 SNPs (rs2496720, rs2252655, rs3851068, rs118153230, rs10827337, and rs12218196) were statistically associated with NTDs (P < .05). After stratifying participants by NTD phenotypes, the significant association only existed in cases with anencephaly rather than spina bifida. Further haplotype analysis confirmed the association between PARD3 polymorphisms and NTD risk (global test P = 3.41e-008). Our results suggested that genetic variants in PARD3 were associated with susceptibility to NTDs in a Chinese Han population, and this association was affected by NTD phenotypes.

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Section: Resultsmentioning

confidence: 99%

Association Study of PARD3 Gene Polymorphisms With Neural Tube Defects in a Chinese Han Population

et al. 2012

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“…Eighty‐six fetuses with spina bifida, 64 with anencephalus, 15 with encephalocele, and 152 control subjects were selected for genotyping (Table ). The classification methods were based on those devised by Cabaret et al (). Control fetuses were aborted for nonmedical reasons and were also obtained from Shanxi Province and selected for methylation analysis and genotyping according to sex and gestation period.…”

Section: Methodsmentioning

confidence: 99%

DNA methylation aberrations rather than polymorphisms of FZD3 gene increase the risk of spina bifida in a high‐risk region for neural tube defects

Shangguan

Wang

Chang

et al. 2014

Birth Defects Research

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“…So we analyzed the association of the ITPK1 polymorphisms with NTD phenotypes (anencephaly, spina bifida). The subtypes were based on those devised by Cabaret et al [20]. The research found that in the spina bifida group, individuals with the heterozygosis genotype were at a significantly increased risk for NTDs, compared with the wide type genotype (Table 5).…”

Section: Resultsmentioning

confidence: 99%

The Maternal ITPK1 Gene Polymorphism Is Associated with Neural Tube Defects in a High-Risk Chinese Population

et al. 2014

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BackgroundEpidemiological surveys and animal studies have revealed that inositol metabolism is associated with NTDs, but the mechanisms are not clear. Inositol 1,3,4-trisphosphate 5/6-kinase (ITPK1) is a pivotal regulatory enzyme in inositol metabolic pathway. The objective was to assess the potential impact of the maternal ITPK1 genotypes on the inositol parameter and on the NTD risk in a NTD high-risk area in China.Methodology/ResultsA case-control study of pregnant women affected with NTDs (n = 200) and controls (n = 320) was carried out. 13 tag SNPs of ITPK1 were selected and genotyped by the Sequenom MassArray system. We found that 4 tag SNPs were statistically significant in spina bifida group (P<0.05). MACH was used to impute the un-genotyped SNPs in ITPK1 locus and showed that 3 meaningful SNPs in the non-coding regions were significant. We also predicted the binding capacity of transcription factors in the positive SNPs using the bioinformatics method and found that only rs3783903 was located in the conserved sequence of activator protein-1 (AP-1). To further study the association between biochemical values and genotypes, maternal plasma inositol hexakisphosphate (IP6) levels were also assessed using LC-MS. The maternal plasma IP6 concentrations in the spina bifida subgroup were 7.1% lower than control (136.67 vs. 147.05 ng mL−1, P<0.05), and significantly lower in rs3783903 GG genotype than others (P<0.05). EMSA showed a different allelic binding capacity of AP-1 in rs3783903, which was affected by an A→G exchange. The RT-PCR suggested the ITPK1 expression was decreased significantly in mutant-type of rs3783903 compared with wild-type in the 60 healthy pregnancies (P<0.05).Conclusions/SignificanceThese results suggested that the maternal rs3783903 of ITPK1 might be associated with spina bifida, and the allele G of rs3783903 might affect the binding of AP-1 and the decrease of maternal plasma IP6 concentration in this Chinese population.

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Embryology of neural tube defects: information provided by associated malformations

Abstract: NDT are more extensive congenital damages that would suggest the restrictive terminology. That prompts to assess cautiously prenatal diagnosis of NTD, and to get detailed pathological examination after termination of pregnancy.

Cited by 13 publications

References 15 publications

Association Study of PARD3 Gene Polymorphisms With Neural Tube Defects in a Chinese Han Population

Association Study of PARD3 Gene Polymorphisms With Neural Tube Defects in a Chinese Han Population

DNA methylation aberrations rather than polymorphisms of FZD3 gene increase the risk of spina bifida in a high‐risk region for neural tube defects

The Maternal ITPK1 Gene Polymorphism Is Associated with Neural Tube Defects in a High-Risk Chinese Population

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