Evidence of gene–gene interactions between <i>MTHFD1</i> and <i>MTHFR</i> in relation to anterior encephalocele susceptibility in Northeast India

Dutta, Hemonta Kumar; Borbora, Debasish; Baruah, Mauchumi; Narain, Kanwar

doi:10.1002/bdra.23607

Cited by 11 publications

(9 citation statements)

References 21 publications

(26 reference statements)

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“…Dutta et al through a case-control study comprising forty anterior encephalocele (AE) cases and eighty controls investigated whether the interaction between MTHFD1 and MTHFR results into susceptibility to AE in population from Northeast India. [39] In this study, 677C>T was not found to be an independent risk factor of AE. Besides, similar to the other two studies cited above, the prevalence of the C677TT genotype among cases was found to be zero or close to zero.…”

Section: Discussioncontrasting

confidence: 49%

“…Our study is in perfect match with studies by Hayati et al ., Sadewa et al ., and Dutta et al . [ 37 38 39 ] where no MTHFR C677 TT genotype was found. Hayati et al .…”

Section: Discussionmentioning

confidence: 99%

“…Nonetheless, we did not find any focused and well-designed study which could relate folate, Vitamin B12, hyperhomocysteinemia, and MTHFR gene mutation with regard to NTDs. [37][38][39] where no MTHFR C677 TT genotype was found. Hayati et al conducted a case-control investigation to ascertain the relationship of the MTHFR C677T polymorphism and incidence of NTDs in Malaysian Malay pediatric population.…”

Section: Discussionmentioning

confidence: 99%

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Study of C677T methylene tetrahydrofolate reductase gene polymorphism as a risk factor for neural tube defects

et al. 2021

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Introduction: Various genetic and environmental factors contribute to the development of neural tube defects (NTDs) which are a group of neurulation defects resulting from failure of closure of embryonic neural tube. Among genetic factors is polymorphism in methylene tetrahydrofolate reductase (MTHFR) gene, giving rise to a gene variant or mutant. However, in most studies directed at finding an association between MTHFR variants and NTD, there is no clear evidence of a cause-and-effect relationship. Materials and Methods: Forty diagnosed cases of NTDs and forty healthy individuals were investigated in a case–control study for presence of C677T MTHFR gene polymorphism. Serum folate and Vitamin B12 levels were estimated and MTHFR gene polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism. Results: It was found that 32 cases were homozygous with CC genotype and eight were heterozygous with CT genotype, whereas 35 controls had CC genotype and five had CT genotype. TT genotype was absent in both the groups. There was no statistically significant difference between both the groups. No evidence of association between MTHFR C677T polymorphism and NTDs was found. Conclusion: Although there was no evidence of association between MTHFR C677T polymorphism and NTDs, our study does not rule out the impact of MTHFR gene mutation on folate metabolism. The reason for absence of TT genotype and no association could be a small sample size. Larger, comprehensive, and well-designed multicentric but feasible studies involving proper subjects and appropriate and adequate controls from several hospitals may provide more meaningful data.

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Section: Discussioncontrasting

confidence: 49%

“…Our study is in perfect match with studies by Hayati et al ., Sadewa et al ., and Dutta et al . [ 37 38 39 ] where no MTHFR C677 TT genotype was found. Hayati et al .…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Study of C677T methylene tetrahydrofolate reductase gene polymorphism as a risk factor for neural tube defects

et al. 2021

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“…Moreover, the observation of rare CNVs in some known NTD risk genes and pathways, including one-carbon metabolism, reinforces the validity of this strategy. Digenic variants have been observed in a number of mouse models of NTDs 38 as well as in human studies, suggesting synergistic deleterious effects of variants in genes involved in folate metabolism 39 or in PCP component genes. 40 While larger cohorts will be needed to reach statistical power necessary to pinpoint specific gene combinations indicative of individual risk, an oligogenic or polygenic model of SB risk is gaining traction and should be considered when evaluating genomic contribution.…”

Section: Discussionmentioning

confidence: 99%

Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida

Wolujewicz

Aguiar‐Pulido

AbdelAleem

et al. 2021

Genetics in Medicine

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Purpose Next-generation sequencing has implicated some risk variants for human spina bifida (SB), but the genome-wide contribution of structural variation to this complex genetic disorder remains largely unknown. We examined copy-number variant (CNV) participation in the genetic architecture underlying SB risk. Methods A high-confidence ensemble approach to genome sequences (GS) was benchmarked and employed for systematic detection of common and rare CNVs in two separate ancestry-matched SB case–control cohorts. Results SB cases were enriched with exon disruptive rare CNVs, 44% of which were under 10 kb, in both ancestral populations (P = 6.75 × 10−7; P = 7.59 × 10−4). Genes containing these disruptive CNVs fall into molecular pathways, supporting a role for these genes in SB. Our results expand the catalog of variants and genes with potential contribution to genetic and gene–environment interactions that interfere with neurulation, useful for further functional characterization. Conclusion This study underscores the need for genome-wide investigation and extends our previous threshold model of exonic, single-nucleotide variation toward human SB risk to include structural variation. Since GS data afford detection of CNVs with greater resolution than microarray methods, our results have important implications toward a more comprehensive understanding of the genetic risk and mechanisms underlying neural tube defect pathogenesis.

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“…La encefalocele frontal se debe a una alteración del cierre del neuroporo anterior durante la embriogénesis que resulta en la herniación o secuestro de tejido a través del frontículo frontal o foramen secum entre los días 26 a 28 de gestación 1- Estos defectos congénitos ocurren 1 por cada 13 000 nacimientos, 5 los reportes en América Latina señalan una prevalencia entre 1,1 a 4,5 por 10,000 nacimientos en poblaciones latinoamericanas 6 , mientras que en el sur de Asia 1 cada 3000 a 5000 nacimientos 7 . La localización más frecuente es en la región occipital (75%) 6 .…”

Section: Introductionunclassified

Encefalocele bilobulado frontal

Aliaga¹,

Zambrano²,

Bao³

et al. 2020

Investigación Materno Perinatal

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La encefalocele frontal, representa una anomalía congénita poco frecuente del cierre de neuróporo anterior, con herniación del contenido craneal. Presentamos el caso clínico de una neonata nacida en el Instituto Materno Perinatal, quién presento al nacimiento, un Encefalocele bilobulado frontal, sin compromiso asociado, aún en nuestro medio carecemos de guías de manejo multidisciplinario, que permitan un pronóstico y evolución favorable.

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Evidence of gene–gene interactions between MTHFD1 and MTHFR in relation to anterior encephalocele susceptibility in Northeast India

Cited by 11 publications

References 21 publications

Study of C677T methylene tetrahydrofolate reductase gene polymorphism as a risk factor for neural tube defects

Study of C677T methylene tetrahydrofolate reductase gene polymorphism as a risk factor for neural tube defects

Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida

Encefalocele bilobulado frontal

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