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

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 th...

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Bibliographic Details
Published in:Egyptian Journal of Medical Human Genetics 2023-12, Vol.24 (1), p.29-7
Main Authors: Esmaiel, Nora N, Ashaat, Engy A, Al-Ettribi, Ghada M, Fayez, Alaaeldin, Alsaiedi, Sonia A, El Ruby, Mona O
Format: Article
Language:English
Subjects:
Alleles
Cardiovascular disease
Children
Congenital diseases
Congenital heart defects
Congenital heart disease
Defects
Enzymes
Equilibrium
Ethnicity
Gene polymorphism
Genetic aspects
Genetic disorders
Genotype & phenotype
Health aspects
Heart
Heart diseases
Homocysteine
Meta-analysis
Methylenetetrahydrofolate reductase
MTHFR C677T
Pediatrics
Polymorphism
Population studies
Restriction fragment length polymorphism
Risk factors
Statistical analysis
Susceptibility
Thermal cycling
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Summary: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.
ISSN:1110-8630
2090-2441
DOI:10.1186/s43042-023-00408-y