Chen Le-Tao, Yang Tu-Bao, Wang Ting-Ting, Zheng Zan, Zhao Li-Juan, Ye Zi-Wei, Zhang Sen-Mao, Qin Jia-Bi
Department of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, Changsha 410078, China (Qin J-B, Email:
Zhongguo Dang Dai Er Ke Za Zhi. 2018 Jun;20(6):490-496. doi: 10.7499/j.issn.1008-8830.2018.06.012.
To study the association of single nucleotide polymorphisms (SNPs) of transcription factors (NKX2.5, GATA4, TBX5, and FOG2) with congenital heart disease (CHD) in the Chinese population.
PubMed, Google Scholar, CNKI, Wanfang Data, and Weipu Data were searched for articles on the association of SNPs of target genes with CHD in the Chinese population. If one locus was mentioned in at least two articles, the random or fixed effect model was used to perform a pooled analysis of study results and to calculate the pooled OR and its 95%CI. If a locus was mentioned in only one article, related data were extracted from this article to analyze the association between the SNPs of this locus and CHD.
Twenty-three articles were included. The Meta analysis showed that there were significant differences between the CHD and control groups in the genotype and allele frequencies of GATA4 rs1139244 and rs867858 and the genotype frequency of GATA4 rs904018, while there were no significant differences in the SNPs of the other genetic loci between the two groups. The single-article analysis showed that there were significant differences between the two groups in the allele frequencies of NKX2.5 rs118026695/rs703752, GATA4 rs884662/rs12825/rs12458/rs3203358/rs4841588, and TBX5 rs6489956. There were no significant differences in the SNPs of FOG2 locus between the two groups.
The SNPs of some loci in NKX2.5, GATA4, and TBX5 are associated with CHD in the Chinese population, but the association between the SNPs of FOG2 locus and the development of CHD has not been found yet.
研究转录因子（NKX2.5、GATA4、TBX5和FOG2）的单核苷酸多态性（SNP）与中国人群先天性心脏病（CHD）的相关性。
检索PubMed、Google Scholar、中国知网、万方数据和维普数据，查找关于中国人群中目标基因SNP与CHD相关性的文章。若一个位点在至少两篇文章中被提及，则采用随机或固定效应模型对研究结果进行合并分析，并计算合并OR值及其95%可信区间。若一个位点仅在一篇文章中被提及，则从该文章中提取相关数据，分析该位点SNP与CHD的相关性。
纳入23篇文章。Meta分析显示，GATA4基因rs1139244和rs867858的基因型及等位基因频率以及GATA4基因rs904018的基因型频率在CHD组和对照组之间存在显著差异，而其他基因位点的SNP在两组之间无显著差异。单篇文章分析显示，NKX2.5基因rs118026695/rs703752、GATA4基因rs884662/rs12825/rs12458/rs3203358/rs4841588以及TBX5基因rs6489956的等位基因频率在两组之间存在显著差异。FOG2基因位点的SNP在两组之间无显著差异。
NKX2.5、GATA4和TBX5基因某些位点的SNP与中国人群CHD相关，但尚未发现FOG2基因位点的SNP与CHD发生之间存在相关性。
