Association between single-nucleotide polymorphisms of NKX2.5 and congenital heart disease in Chinese population: A meta-analysis

NKX2.5 is a transcription factor that plays a key role in cardiovascular growth and development. Several independent studies have been previously conducted to investigate the association between the single-nucleotide polymorphism (SNP) 606G >C (rs3729753) in the coding region of NKX2.5 and congenital heart disease (CHD). However, the results of these studies have been inconsistent. Therefore, the present study aimed to reveal the relationship between NKX2.5 SNP 606G >C and the risk of CHD as possible in the Chinese population through meta-analysis. After retrieving related articles in PubMed, MEDLINE, EMBASE, Web of science, Cochrane, China National Knowledge Infrastructure, Wanfang DATA, and VIP database until August 2021, a total of eight studies were included in the present meta-analysis. The qualified research data were then merged into allele, dominant, recessive, heterozygous, homozygous, and additive models. Overall results of the current meta-analysis showed that 606G >C was not associated with CHD of the Chinese population in any model. In addition, subgroup analysis based on CHD type gave the same negative result. Results of sensitivity analysis showed that there was no significant correlation after the deletion of each study. Furthermore, it was noted that the results were negative and the heterogeneity was not significant. In conclusion, it was evident that NKX2-5 SNP 606G >C may not lead to the risk of CHD in Chinese population.