ArticleThe Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology2021
The role of NKX2-5 gene polymorphisms in congenital heart disease (CHD): a systematic review and meta-analysis.
Article in The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 5 citations in OpenAlex.
- Combined effects of maternal periconceptional environmental exposures and infant cardiac transcription factor polymorphisms on congenital heart disease risk.Annals of medicine · 2026Article
- Role of Vascular Endothelial Growth Factor as a Potential Biomarker in Congenital Heart Defects: A Systematic Review.The journal of Tehran Heart Center · 2023Review
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3 authors at 1 institution in 1 country.
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Abstract
backgroundThe gene NKX2-5 is a key transcription factor that plays an essential role in normal cardiac development. Although some recent studies have studied the role of polymorphisms in the NKX2-5 gene in congenital heart diseases (CHDs), the results were not consistent and remained uncertain. Therefore, we conduct a review of literature and investigate the association of genetic polymorphisms with CHDs.
resultsWe selected seventeen studies regarding the association of NKX2-5 gene rs2277923 polymorphism with CHDs. Overall, in all the tested genetic models, the 63A > G polymorphism was not significantly associated with increased congenital heart defects risk. We used pooled odds ratios (OR) to calculate the association of CHDs with rs2277923 including allelic model: OR 1.00, 95% CI 0.82-1.21; homozygote model: OR 0.95, 95%CI 0.68-1.33, recessive model: OR 0.89 CI 0.70-1.13, heterozygote model: OR: 1.09, 95%CI 0.87-1.37, dominant model: OR 1.08 CI 0.82-1.42 and overdominant model: OR 1.17 CI 1.01-1.35. In addition, our analysis suggests that no publication bias exists in this meta-analysis.
conclusionsOur findings suggested that 63A > G polymorphism in the NKX2-5 gene was not significantly associated with congenital heart defects. However, in the future, more studies with increased sample size are required that may provide us more definite conclusions.
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