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.
CHEN Le-Tao,YANG Tu-Bao,WANG Ting-Ting et al. Association of single nucleotide polymorphisms of transcription factors with congenital heart diseases in the Chinese population: a Meta analysis[J]. CJCP, 2018, 20(6): 490-496.
CHEN Le-Tao,YANG Tu-Bao,WANG Ting-Ting et al. Association of single nucleotide polymorphisms of transcription factors with congenital heart diseases in the Chinese population: a Meta analysis[J]. CJCP, 2018, 20(6): 490-496.
Rosamond W, Flegal K, Furie K, et al. Heart disease and stroke statistics-2008 update:a report from the American Heart Association Statistics Committee and Stroke Statistics Subcommittee[J]. Circulation, 2008, 117(4):e25-e146.
[2]
Knowles R, Griebsch I, Dezateux C, et al. Newborn screening for congenital heart defects:a systematic review and cost-effectiveness analysis[J]. Health Technol Assess, 2005, 9(44):1-152, iii-iv.
Xie X, Shi X, Xun X, et al. Associations of NKX2-5 genetic polymorphisms with the risk of congenital heart disease:a meta analysis[J]. Pediatr Cardiol, 2016, 37(5):953-961.
[6]
Lo CK, Mertz D, Loeb M. Newcastle-Ottawa Scale:comparing reviewers' to authors' assessments[J]. BMC Med Res Methodol, 2014, 14:45.
Zhang W, Li X, Shen A, et al. Screening NKX2.5 mutation in a sample of 230 Han Chinese children with congenital heart diseases[J]. Genet Test Mol Biomarkers, 2009, 13(2):159-162.
Peng T, Wang L, Zhou SF, et al. Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease[J]. Genetica, 2010, 138(11-12):1231-1240.
Ouyang P, Saarel E, Bai Y, et al. A de novo mutation in NKX2.5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden death[J]. Clin Chim Acta, 2011, 412(1-2):170-175.
Pang S, Shan J, Qiao Y, et al. Genetic and functional analysis of the NKX2-5 gene promoter in patients with ventricular septal defects[J]. Pediatr Cardiol, 2012, 33(8):1355-1361.
Xiong F, Li Q, Zhang C, et al. Analyses of GATA4, NKX2.5, and TFAP2B genes in subjects from southern China with sporadic congenital heart disease[J]. Cardiovasc Pathol, 2013, 22(2):141-145.
[20]
Huang X, Niu W, Zhang Z, et al. Identification of novel significant variants of ZFPM2/FOG2 in non-syndromic Tetralogy of Fallot and double outlet right ventricle in a Chinese Han population[J]. Mol Biol Rep, 2014, 41(4):2671-2677.
Yang XY, Jing XY, Chen Z, et al. Correlation between GATA4 gene polymorphism and congenital heart disease[J]. Int J Clin Exp Med, 2015, 8(9):16733-16736.
Cao Y, Wang J, Wei C, et al. Genetic variations of NKX2-5 in sporadic atrial septal defect and ventricular septal defect in Chinese Yunnan population[J]. Gene, 2016, 575(1):29-33.
Wang Z, Zou L, Zhong R, et al. Associations between two genetic variants in NKX2-5 and risk of congenital heart disease in Chinese population:a meta-analysis[J]. PLoS One, 2013, 8(8):e70979.
[34]
Zhang Y, Ai F, Zheng J, et al. Associations of GATA4 genetic mutations with the risk of congenital heart disease:a meta-analysis[J]. Medicine (Baltimore), 2017, 96(18):e6857.
