Association between MTHFD1 polymorphisms and neural tube defect susceptibility

Meng, Jingjing; Han, Lei; Zhuang, Bo

doi:10.1016/j.jns.2014.12.001

Cited by 17 publications

(12 citation statements)

References 31 publications

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“…Among the NTD cases, the polymorphism conferred only minor risk in the dominant model (OR, 1.03; p = 0.12) and the recessive model (OR, 1.09; p = 0.28), which is quite similar to our findings (Table ). But in their recent study, Meng et al reported a significant association between the MTHFD1 1958G>A polymorphism and NTD susceptibility in a Chinese population (Meng et al, ). We believe that these conflicting results are because of the heterogeneity of samples in these studies.…”

Section: Discussionmentioning

confidence: 98%

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

Dutta

Borbora

Baruah

et al. 2017

Birth Defects Research

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The data support our hypothesis of gene-gene interaction between MTHFD1 and MTHFR and the risk of AE. Together with the MTHFR haplotypes, MTHFD1 elevates risk in a progressive manner. The minor allelic frequencies of the MTHFD1 1958G>A and MTHFR 1298A>C in our populations were similar to those reported from Southeast Asian population, suggesting a possible explanation for the prevalence of this malformation in these regions. Birth Defects Research 109:432-444, 2017. © 2017 Wiley Periodicals, Inc.

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Section: Discussionmentioning

confidence: 98%

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

Dutta

Borbora

Baruah

et al. 2017

Birth Defects Research

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“…The mutation of SCF19M1 is associated with increased NTD risk even when mothers are supplemented with folic acid [6]. In addition, mutations on BHMT [6,19,31], CBS [19,32], MTRR [19,33,34], MTHFD1 [19,35,36,37,38,39,40,41], MTHFD2 [19], SHMT1 [36], FOLH1 [42], RFC1 [43,44], SARDH [45], PEMT [40], GART [40] and TYMS [19,36] have also been reported to be associated with the risk of NTDs.…”

Section: B-vitamins One-carbon Metabolism and Ntdsmentioning

confidence: 99%

Nutrition, One-Carbon Metabolism and Neural Tube Defects: A Review

Wahlqvist

2016

Nutrients

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Neural tube defects (NTDs) are a group of severe congenital malformations, induced by the combined effects of genes and the environment. The most valuable finding so far has been the protective effect of folic acid supplementation against NTDs. However, many women do not take folic acid supplements until they are pregnant, which is too late to prevent NTDs effectively. Long-term intake of folic acid–fortified food is a good choice to solve this problem, and mandatory folic acid fortification should be further promoted, especially in Europe, Asia and Africa. Vitamin B2, vitamin B-6, vitamin B-12, choline, betaine and n-3 polyunsaturated fatty acids (PUFAs) can also reduce the NTD risk by interacting with the one-carbon metabolism pathway. This suggest that multivitamin B combined with choline, betaine and n-3 PUFAs supplementation may have a better protective effect against NTDs than folic acid alone. Genetic polymorphisms involved in one-carbon metabolism are associated with NTD risk, and gene screening for women of childbearing age prior to pregnancy may help prevent NTDs induced by the risk allele. In addition, the consumption of alcohol, tea and coffee, and low intakes of fruit and vegetable are also associated with the increased risk of NTDs, and should be avoided by women of childbearing age.

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“…Due to the limitation of sample size, we conducted a meta-analysis of association between MTHFD1 1958G > A polymorphism and the risk of NTDs based on previous studies. A total of seven case-control studies were identi ed according to the inclusion criterion [10][11][12][13][14][15][16].The characteristics of selected studies are summarized in Table 4. As shown in…”

Section: Meta-analysis Of the Correlation Between Mthfd1 1958g > A Pomentioning

confidence: 99%

Correlation analysis of MTHFD1 gene polymorphisms and neural tube defects in Han population of Northern China

Fang

Liu

Shu

et al. 2020

Preprint

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Background Neural tube defects (NTDs) is a common birth defects worldwide. The methylenetetrahydrofolate dehydrogenase1 (MTHFD1) gene has been proved to play an important role in folate metabolism, which was strongly associated with the increased NTDs risk. The study is aimed to explore the correlation of single nucleotide polymorphisms (SNPs) in MTHFD1 gene with NTDs susceptibility. Methods A case-control study was conducted on children who included 152 NTDs patients and 169 healthy controls. Tag-SNPs were identified in HapMap database. Then, we investigated the association between NTDs and four selected tag-SNPs in MTHFD1 gene: rs1950902, rs2236225, rs2236224, rs11849530. We also performed a meta-analysis based on previous published studies to further evaluate the association. Results The results indicated that rs2236225 polymorphism displayed a significant association with NTDs risk (AA vs. GG: OR = 2.862, 95%CI = 1.022ཞ8.015; GA + AA vs. GG: OR = 1.619, 95%CI = 1.040ཞ2.520; A vs. G: OR = 1.500, 95%CI = 1.061ཞ2.120). In addition, rs2236224 polymorphism was correlated with increased NTDs risk (TT vs. CC: OR = 2.559, 95%CI = 1.128ཞ5.804; CT + TT vs. CC; OR = 1.631, 95%CI = 1.041ཞ2.556; T vs C: OR = 1.489, 95%CI = 1.072ཞ2.068). Further analysis showed the harmful effect of rs2236225 polymorphism was further supported by the result of meta-analysis. Meanwhile, haplotype analysis results showed that A-A and T-A haplotypes were correlated with increased NTDs risk, but C-A haplotype might decrease NTDs risk. Conclusions The results indicated that rs2236225 and rs2236224 polymorphisms of MTHFD1 gene were significantly associated with NTDs susceptibility in Han population of Northern China.

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Association between MTHFD1 polymorphisms and neural tube defect susceptibility

Cited by 17 publications

References 31 publications

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

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

Nutrition, One-Carbon Metabolism and Neural Tube Defects: A Review

Correlation analysis of MTHFD1 gene polymorphisms and neural tube defects in Han population of Northern China

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