Study on Maternal SNPs of MTHFR Gene and HCY Level Related to Congenital Heart Diseases

Shi, Hui; Yang, Shiwei; Lin, Ning; Huang, Peng; Yu, Rongbin; Chen, Mei; Wang, Limin; Jiang, Zhixin; Sun, Xiaoru

doi:10.1007/s00246-020-02449-1

Cited by 5 publications

(6 citation statements)

References 13 publications

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“…In a word, it could reasonably deduce that aberrant expression or genetic mutations of the MTHFR gene may have a varied effect on the process of folate utilization, which could lead to the accumulation of homocysteine. Some studies provided definite evidence that genetic polymorphisms of the MTHFR gene increased homocysteine levels and were associated with the status of low folate ( 10 , 44 ), which partly verified our presumption. The ponderable of the potential mechanism between the MTHFR gene and the CHD risk awaits further exploration.…”

Section: Discussionsupporting

confidence: 80%

“…The knowledge from the public database and kinds of literature explicitly uncover these SNPs are significant for coding. Notably, associations of genetic polymorphisms rs1801133 and rs1801131 at the MTHFR gene with the risk of CHD have been fully discussed despite the existence of dissenting findings (21,23,(43)(44)(45). This study creatively analyzed eight SNPs of the MTHFR gene and probed the correlation of these SNPs with the development of CHD, which could provide a revealing insight into MTHFR genetic mutations correlated with the CHD risk.…”

Section: Discussionmentioning

confidence: 99%

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Association of methylenetetrahydrofolate reductase gene polymorphisms and maternal folic acid use with the risk of congenital heart disease

et al. 2022

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BackgroundTo systematically evaluate the association of MTHFR genetic polymorphisms, maternal folic acid intake, and the time when folic acid intake was started with the risk of congenital heart disease (CHD) and investigated the role of their interaction on infant CHD risk in Chinese populations.MethodsA case–control study involving 592 CHD cases, 617 health controls, and their mothers was performed. The exposures of interest were single nucleotide polymorphisms (SNPs) of the MTHFR gene, maternal folic acid use, and the time when folic acid use was started. We applied the logistic regression model to explore the strength of association.ResultsOur findings showed that mothers lacking folic acid intake had a significantly higher risk of CHD in offspring (aOR = 2.00; 95%CI: 1.34–2.98). Mothers who started to use folic acid from the first trimester of the fetation (aOR = 1.65; 95% CI: 1.22–2.23) or from the second trimester of the fetation (aOR = 7.77; 95% CI: 2.52–23.96), compared with those starting to use folic acid from 3 months previous to the conception, were at a significantly higher risk of CHD in offspring. Genetic variants at rs2066470 (AA vs. GG: aOR = 5.09, 95%CI: 1.99–13.03), rs1801133 (AA vs. GG: aOR = 2.49, 95%CI: 1.58–3.93), and rs1801131 (TG vs. TT: aOR = 1.84, 95%CI: 1.36–2.50; GG vs. TT: aOR = 3.58, 95%CI: 1.68–7.63) were significantly associated with the risk of CHD based on the multivariate analysis. Additionally, statistically significant interactions between maternal folic acid intake and genetic variants of the MTHFR gene at rs1801133 and rs1801131 were observed.ConclusionAn association of maternal folic acid intake and the time when intake was started with the risk of CHD in offspring was found. What's more, maternal folic acid fortification may help counteract partial of the risks of CHD in offspring attributable to MTHFR genetic mutations.Registration numberhttp://www.chictr.org.cn/edit.aspx?pid=28300&htm=4, identifier: ChiCTR1800016635.

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Section: Discussionsupporting

confidence: 80%

Section: Discussionmentioning

confidence: 99%

Association of methylenetetrahydrofolate reductase gene polymorphisms and maternal folic acid use with the risk of congenital heart disease

et al. 2022

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“…Mamasoula [19] analyzed MTHFR C677T genotyping on 5814 CHD cases and 10,056 controls in the European and Australian populations across meta-analysis study; they found no significant effect of MTHFR C677T genotyping on CHD risk. Wang et al [20] and Shi et al [21] concluded that maternal MTHFR C677T increase in risk of given birth of a CHDs children and frequency of maternal TT allele was significantly higher in affected group than control one. In Iranian CHD patients, Noori et al [22] found that TT allele was considered highest risk for CHDs especially VSD phenotype (OR 10, 95% CI 1-92.2, P = 0.04).…”

Section: Discussionmentioning

confidence: 99%

Association between MTHFR C677T variant and risk for congenital heart defects in Egyptian children: a case–control study including meta-analysis based on 147 cases and 143 controls

Esmaiel

Ashaat

AlEttribi

et al. 2023

Egypt J Med Hum Genet

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Background Stratification analysis studies showed that ethnicity has a significant association regarding MTHFR C677T variant and congenital heart diseases (CHDs) risk, and many published studies have controversial conclusions toward this association. Methods In this study, the association between the MTHFR C677T variant and the risk for CHDs was evaluated in 91 children with CHD and 95 healthy controls, as new cases, by using restriction fragment length polymorphism (RFLP) technique. Besides that, 2 case–control studies in the Egyptian population published before 2021 were included in this meta-analysis. The association was assessed by the odds ratio (OR) with a 95% confidence interval (CI) based on 294 alleles in CHD cases and 286 alleles in controls. Results The overall meta-analysis showed a significant association between MTHFR C677T variant and CHDs risk in Egyptian children with heterogeneity (Heterogeneity = 0.001) in all the genetic models with the highly significant association in T versus C allele (pooled OR 1.89, 95% CI 1.31–2.74; p value < 0.0004). The consistency of the genotypes was detected by Hardy–Weinberg equilibrium (HWE). Conclusions Our results support the MTHFR -677T allele as a susceptibility factor for CHDs in the Egyptian pediatric patients.

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“…Based on data published previously, the T allele of rs1801133 (g.14783C > T), is a risk factor for heart disorders [ 34 – 36 ]. Different ethnic groups including Egyptians, Tamilians, Iranian and Chinese have been reported to carry the T allele in association with congenital heart disease [ 22 , 37 – 40 ]. Similarly, we obtained results in our cohort showing that the risk allele has a higher frequency in cases compared to controls.…”

Section: Discussionmentioning

confidence: 99%

Study of variants associated with ventricular septal defects (VSDs) highlights the unique genetic structure of the Pakistani population

et al. 2022

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Background Ventricular septal defects (VSDs) are one of the leading causes of death due to cardiac anomalies during the first months of life. The prevalence of VSD in neonates is reported up to 4%. Despite the remarkable progress in medication, treatment and surgical procedure for VSDs, the genetic etiology of VSDs is still in infancy because of the complex genetic and environmental interactions. Methods Three hundred fifty subjects (200 VSD children and 150 healthy controls) were recruited from different pediatric cardiac units. Pediatric clinical and demographic data were collected. A total of six variants, rs1017 (ISL1), rs7240256 (NFATc1), rs36208048 (VEGF), variant of HEY2, rs11067075 (TBX5) and rs1801133 (MTHFR) genes were genotyped by tetra-ARMS PCR and PCR–RFLP methods. Results The results showed that in cases, the rs1017 (g.16138A > T) variant in the ISL1 gene has an allele frequency of 0.42 and 0.58 respectively for the T and A alleles, and 0.75 and 0.25 respectively in the controls. The frequencies of the AA, TA and TT genotypes were, 52%, 11% and 37% in cases versus 21%, 8% and 71% respectively in the controls. For the NFATc1 variant rs7240256, minor allele frequency (MAF) was 0.43 in cases while 0.23 in controls. For the variant in the VEGF gene, genotype frequencies were 0% (A), 32% (CA) and 68% (CC) in cases and 0.0%, 33% and 67% respectively in controls. The allele frequency of C and A were 0.84 and 0.16 in cases and 0.83 and 0.17 respectively in controls. The TBX5 polymorphism rs11067075 (g.51682G > T) had an allelic frequency of 0.44 and 0.56 respectively for T and G alleles in cases, versus 0.26 and 0.74 in the controls. We did not detect the presence of the HEY2 gene variant (g.126117350A > C) in our pediatric cohort. For the rs1801133 (g.14783C > T) variant in the MTHFR gene, the genotype frequencies were 25% (CC), 62% (CT) and 13% (TT) in cases, versus 88%, 10% and 2% in controls. The ISL1, NFATc1, TBX5 and MTHFR variants were found to be in association with VSD in the Pakistani pediatric cohort whilst the VEGF and HEY2 variants were completely absent in our cohort. Conclusion We propose that a wider programme of genetic screening of the Pakistani population for genetic markers in heart development genes would be helpful in reducing the risk of VSDs.

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Study on Maternal SNPs of MTHFR Gene and HCY Level Related to Congenital Heart Diseases

Cited by 5 publications

References 13 publications

Association of methylenetetrahydrofolate reductase gene polymorphisms and maternal folic acid use with the risk of congenital heart disease

Association of methylenetetrahydrofolate reductase gene polymorphisms and maternal folic acid use with the risk of congenital heart disease

Association between MTHFR C677T variant and risk for congenital heart defects in Egyptian children: a case–control study including meta-analysis based on 147 cases and 143 controls

Study of variants associated with ventricular septal defects (VSDs) highlights the unique genetic structure of the Pakistani population

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