中国人群心脏转录因子的单核苷酸多态性与先天性心脏病关系的Meta分析

Association of single nucleotide polymorphisms of transcription factors with congenital heart diseases in the Chinese population: a Meta analysis

摘要:

目的 评价中国人群心脏转录因子（NKX2.5、GATA4、TBX5、FOG2）的单核苷酸多态性（SNP）与先天性心脏病（CHD）的关系。方法 检索PubMed、Google学术、中国知网、万方数据资源系统、重庆维普数据库等中英文数据库获取中国人群目标基因SNP与CHD关系的文献。当同一位点研究文献数≥2时，采用随机或固定效应模型将各研究结果合并，计算合并OR及95%CI。若位点只在单篇文献中提及，则提取文献相关数据计算该位点SNP与CHD的关系。结果 共纳入23篇文献。Meta分析结果显示，GATA4中rs1139244和rs867858的基因型和等位基因频率及rs904018的基因型频率在CHD组和对照组中差异有统计学意义，未发现其余基因位点SNP在CHD组和对照组中差异有统计学意义。单篇文献分析结果显示，NKX2.5中rs118026695和rs703752、GATA4中rs884662、rs12825、rs12458、rs3203358、rs4841588及TBX5中rs6489956等位基因频率在两组中差异存在统计学意义。现有FOG2基因位点的SNP在两组中差异无统计学意义。结论 中国人群NKX2.5、GATA4、TBX5基因的一些现有位点的SNP与CHD的发生有关；尚未发现FOG2基因现有位点的SNP与CHD的发生有关。

Abstract:

Objective 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. Methods 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. Results 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. Conclusions 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.