The 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. We 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. Our 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.

中文翻译：

---

NKX2-5 基因多态性在先天性心脏病 (CHD) 中的作用：系统评价和荟萃分析

NKX2-5 基因是一个关键的转录因子，在正常心脏发育中起着至关重要的作用。尽管最近的一些研究已经研究了 NKX2-5 基因多态性在先天性心脏病 (CHD) 中的作用，但结果并不一致且仍不确定。因此，我们进行文献回顾并研究遗传多态性与冠心病的关联。我们选择了 17 项关于 NKX2-5 基因 rs2277923 多态性与 CHD 关联的研究。总体而言，在所有测试的遗传模型中，63A > G 多态性与先天性心脏病风险增加没有显着相关性。我们使用合并优势比 (OR) 来计算 CHD 与 rs2277923 的关联，包括等位基因模型：OR 1.00，95% CI 0.82–1.21；纯合子模型：OR 0.95，95%CI 0.68–1.33，隐性模型：OR 0。89 CI 0.70-1.13，杂合子模型：OR：1.09，95%CI 0.87-1.37，显性模型：OR 1.08 CI 0.82-1.42 和优势模型：OR 1.17 CI 1.01-1.35。此外，我们的分析表明，该荟萃分析不存在发表偏倚。我们的研究结果表明 NKX2-5 基因中的 63A > G 多态性与先天性心脏缺陷没有显着相关性。但是，未来需要更多样本量更大的研究，才能为我们提供更明确的结论。NKX2-5 基因中的 G 多态性与先天性心脏缺陷没有显着相关性。但是，未来需要更多样本量更大的研究，才能为我们提供更明确的结论。NKX2-5 基因中的 G 多态性与先天性心脏缺陷没有显着相关性。但是，未来需要更多样本量更大的研究，才能为我们提供更明确的结论。