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.
Highlights
The gene NKX2-5 is a key transcription factor that plays an essential role in normal cardiac development
334 published studies were selected, of which articles were not included as they did not study the rs2277923 association with congenital heart diseases, 60 articles were selected for further evaluation
The NKX25 gene is the vital gene that interacts with other transcriptional factors, including the T-box transcription factor (TBX5) and GATA4; it plays a crucial role in cardiac development
Summary
The gene NKX2-5 is a key transcription factor that plays an essential role in normal cardiac development. 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. CHDs are considered one of the major causes of mortality and morbidity in infants. It is the most common disease with an estimated prevalence of six per thousand live births [3]. Full list of author information is available at the end of the article and severe [5] It can be further divided as isolated lesion and complex lesion in combination with various heart defects, or it may occur as syndromic CHDs [6]. It is a multifactorial disease that involves genetic, as well as environmental risk factors [8]
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