Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G&gt;A polymorphism for neural tube defect risk

Marco, Patrizia De; Merello, Elisa; Calevo, Maria Grazia; Mascelli, Samantha; Raso, Alessandro; Cama, Armando; Capra, Valeria

doi:10.1007/s10038-005-0329-6

Cited by 70 publications

(54 citation statements)

References 21 publications

(20 reference statements)

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“…Low 1958AA homozygous genotype frequency (5.4% in controls) was also reported in Chinese population by Wang et al (2007a). MTHFD G1958A polymorphism may result in disturbance of the folate-mediated Hcy pathway and has been observed with increased risk of birth defects such as NTD and unexplained second semester pregnancy loss (Parle-McDermott et al, 2005;De Marco et al, 2006). However, in the present study, this mutant was not associated with an increased risk for giving birth to a DS child.…”

Section: Discussionsupporting

confidence: 51%

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Combined folate gene MTHFD and TC polymorphisms as maternal risk factors for Down syndrome in China

Liao¹,

Zhang²,

Zhou³

et al. 2014

Genet. Mol. Res.

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ABSTRACT. We examined whether polymorphisms in the methylenetetrahydrofolate dehydrogenase (MTHFD) and transcobalamin (TC) genes, which are involved in folate metabolism, affect maternal risk for Down syndrome. We investigated 76 Down syndrome mothers and 115 control mothers from Bengbu, China. Genomic DNA was isolated from the peripheral lymphocytes. Polymerase chain reaction and restriction fragment length polymorphism were used to examine the polymorphisms of MTHFD G1958A and TC C776G. The frequencies of the polymorphic alleles were 24.3 and 19.1% for MTHFD 1958A, 53.9 and 54.2% for TC 776G, in the case and control groups, respectively. No significant differences were found between two groups in relation to either the allele or the genotype frequency for both polymorphisms. However, when gene-gene interactions between these two polymorphisms together with previous studied C677T and A1298C polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) 1765©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 13 (1): 1764-1773 (2014) Folate gene polymorphisms and the risk of Down syndrome gene were analyzed, the combined MTHFR 677CT/TT and MTHFD 1958AA/GA genotype was found to be significantly associated with the risk of having a Down syndrome child [odds ratio (OR) = 3.11; 95% confidence interval (95%CI) = 1.07-9.02]. In addition, the combined TC 776CG and MTHFR 677TT genotype increased the risk of having a child with Down syndrome 3.64-fold (OR = 3.64; 95%CI = 1.28-10.31).In conclusion, neither MTHFD G1958A nor TC C776G polymorphisms are an independent risk factor for Down syndrome. However, the combined MTHFD/MTHFR, TC/MTHFR genotypes play a role in the risk of bearing a Down syndrome child in the Chinese population.

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Section: Discussionsupporting

confidence: 51%

“…The MTHFD G1958A polymorphism reduces the enzyme's activity and stability, and has been associated with an increased risk of NTD (De Marco et al, 2006). Transcobalamin (TC), a cobalamin-transporting protein, plays an important role in vitamin B12 cellular uptake and metabolism.…”

Section: Introductionmentioning

confidence: 99%

Combined folate gene MTHFD and TC polymorphisms as maternal risk factors for Down syndrome in China

Liao¹,

Zhang²,

Zhou³

et al. 2014

Genet. Mol. Res.

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“…Several studies reported that MTHFD1-G1958A could be a maternal NTD risk factor [28,29], but not a children factor. However, De Marco et al [30] found an increased risk for heterozygous 1958G/A and homozygous 1958A/A genotypes in children. Our results also indicated a negative association between MTHFD1-G1958A and NTDs, consistent with conclusions from studies by Parle-McDermott and Brody.…”

Section: Discussionmentioning

confidence: 99%

Genetic Study of 12 SNPs involved in 11 Folate Metabolism Genes and Neural Tube Defects in Suzhou Children

Zhu¹,

Li²

2016

J Mol Genet Med

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Objective: Neural tube defect (NTD) incidence could be effectively reduced by folic acid supplementation before and during pregnancy. We studied single nucleotide polymorphisms (SNPs) involved in folate metabolism to explore genetic susceptibility to NTD. We studied the association between 12 SNPs involved in 11 folate metabolism genes and NTDs. Methods:We enrolled 76 children with NTD and 188 control children. We genotyped 12 folate metabolism SNPs including

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“…Family-based tests also confirmed a significant excess of transmission of the 1958A allele to affected individuals, demonstrating that this variant is a genetic risk factor for Italian NTD cases. [44] A potential role of the mitochondrial paralogue MTHFD1L as candidate gene for NTDs association has been also investigated. In particular, a common triallelic deletion/insertion variant 781-6823ATT(7-9) which influences splicing efficiency was tested and a significant incresead risk for allele 1 [ATT (7)] was identified.…”

Section: Variantmentioning

confidence: 99%

Advances in Genetics of Non Syndromic Neural Tube Defects

Marco¹

2012

Neural Tube Defects - Role of Folate, Prevention Strategies and Genetics

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Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk

Cited by 70 publications

References 21 publications

Combined folate gene MTHFD and TC polymorphisms as maternal risk factors for Down syndrome in China

Combined folate gene MTHFD and TC polymorphisms as maternal risk factors for Down syndrome in China

Genetic Study of 12 SNPs involved in 11 Folate Metabolism Genes and Neural Tube Defects in Suzhou Children

Advances in Genetics of Non Syndromic Neural Tube Defects

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