Maternal and offspring methylenetetrahydrofolate reductase gene C677T polymorphism: does it influence the prevalence of congenital heart defects in Egyptian neonates?

El-Abd, Dina Mohamed; Said, Reem N.; Hanna, Baher; EL-Naggar, Nouran Farouk

doi:10.1007/s00580-012-1613-4

Cited by 4 publications

(6 citation statements)

References 24 publications

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“…Our recent meta-analysis demonstrated that the MTHFR C677T variant is associated with the risk of conotruncal heart defects in Egyptian neonatal patients. Across Egyptian CHD patients, several casecontrol studies were performed on the association of MTHFR variants with CHDs susceptibility, out of the three studies recruited Egyptian CHDs children [7][8][9], showing uninformative results. Although the genotyping bias was detected in two studies out of them, associations between infant MTHFR C677T variant and the risk of CHDs were detected across all genetic inheritance models.…”

Section: Discussionmentioning

confidence: 99%

“…Although there are enormous studies that have been pointed to a relationship between C677T and the risk of CHD, the conclusion is still inconsistent, especially regarding the participants' ethnicity, besides, the modest effect of the MTHFR C677T variant may have subjected to limited statistical. On the Egyptian population, there are three distinct case-control studies were done and published on the PubMed database [7][8][9]. Thus, to provide more consistency and comprehensive results, an updated meta-analysis approach was applied in the current study for all published data (until Jan 2021) and our cases data of Egyptian CHDs patients including 860 alleles (434 patients alleles and 426 controls one) to evaluate the association between MTHFR C677T variant and conotruncal heart defects susceptibility.…”

Section: Introductionmentioning

confidence: 99%

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Association between MTHFR C677T Variant and Risk for Conotruncal Heart Defects in Egyptian Children: A Meta-analysis based on 217 cases and 213 controls

Esmaiel

Ashaat

AlEttribi

et al. 2022

Preprint

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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. A total of 3 case-control studies in the Egyptian population published before 2021 were included in this meta-analysis, besides new 186 participants to evaluate the association between the MTHFR C677T variant and the risk for CHDs. The association was assessed by the odds ratio (OR) with a 95% confidence interval (CI) based on 217 cases and 213 controls. 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 vs. C allele (pooled OR 1.85, 95% CI: 1.41–2.43; p-value < 0.0001). The limitation of the analysis was detected by Hardy-Weinberg equilibrium (HWE) in two studies that demonstrated statistical significance. Our results support the MTHFR − 677T allele as a susceptibility factor for CHDs in the Egyptian pediatric population.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Association between MTHFR C677T Variant and Risk for Conotruncal Heart Defects in Egyptian Children: A Meta-analysis based on 217 cases and 213 controls

Esmaiel

Ashaat

AlEttribi

et al. 2022

Preprint

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show abstract

“…However, other authors suggested that congenital heart anomalies are associated with low maternal folate as well as with hyperhomocysteinemia [11, 12]. Authors revealed that cobalamin and folate administration may help to reduce the development of cardiac malformations [13, 14]. …”

Section: Discussionmentioning

confidence: 99%

Abnormal Biomarkers of Homocysteine Metabolism in Neonates with Conotruncal Heart Defects

Surmiak

Baumert

Paprotny

2017

BioMed Research International

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Objectives The etiology of conotruncal heart defects (CHD) remains unknown; however relation between homocysteine, folate levels, and congenital heart disease was found. With this perspective in mind, the aim of the study was to investigate biomarkers of homosyteine metabolism pathway in mothers and their neonates with CHD. Material and Methods Forty-three pairs of mothers and their neonates with CHD and forty pairs of mothers and neonates with nonconotruncal heart defects (non-CHD) were enrolled. The control group (CG) consisted of fifty-nine pairs of mothers and their healthy neonates. For estimating the plasma total homocysteine (tHcy), serum folates, and cobalamin levels, mothers' venous blood samples and umbilical cord blood were taken in all groups. Results We observed higher tHcy levels in newborns with CHD in comparison to their mothers and to neonates with non-CHD. Cobalamin levels were significantly lower in neonates with CHD compared to other children. Folates and cobalamin levels were lower in CHD mothers compared to their children. Conclusions Elevated homocysteine levels in neonates with CHD and folate metabolism disturbances in their mothers were noticed. The observed differences in homocysteine and cobalamin levels between neonates with CHD suggest the influence of various agents disturbing homocysteine metabolic pathways.

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“…The included cases involve two categories of CHDs (conotruncal heart defects with septal defects (mixed) and conotruncal heart defects only). In El-Abd et al [9] and Kotby et al [7], the equilibrium of the genotype distributions in controls was detected according to Hardy-Weinberg Equilibrium (HWE) test, and all values are shown in Table 3. Consideration of patients' sex and age comparison was not permitted because that the descriptive data of the study population regarding sex and age were not completely cited in all included publications.…”

Section: Characteristics Of the Included Participants And Studiesmentioning

confidence: 99%

“…Although there are enormous studies that have been pointed to a relationship between C677T and the risk of CHD, the conclusion is still inconsistent, especially regarding the participants' ethnicity, sample size, and limited statistical analysis. On the Egyptian population, there are three distinct case-control studies that were done and published on the PubMed database [7][8][9]. Thus, to provide more consistency and comprehensive results, an updated meta-analysis approach was applied in the current study for all published data (until Jan 2021) and our cases data of Egyptian conotruncal heart and cardiac septal defects patients including 900 alleles (454 patients alleles and 446 controls one) to evaluate the association between MTHFR C677T variant and CHD susceptibility.…”

Section: Introductionmentioning

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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Maternal and offspring methylenetetrahydrofolate reductase gene C677T polymorphism: does it influence the prevalence of congenital heart defects in Egyptian neonates?

Cited by 4 publications

References 24 publications

Association between MTHFR C677T Variant and Risk for Conotruncal Heart Defects in Egyptian Children: A Meta-analysis based on 217 cases and 213 controls

Association between MTHFR C677T Variant and Risk for Conotruncal Heart Defects in Egyptian Children: A Meta-analysis based on 217 cases and 213 controls

Abnormal Biomarkers of Homocysteine Metabolism in Neonates with Conotruncal Heart Defects

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

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