title: Associations of NKX2-5 Genetic Polymorphisms with the Risk of Congenital Heart Disease: A Meta-analysis.
abstract: The NKX2-5 gene is a vital regulator of cardiac formation and development. Recently, the roles of NKX2-5 63A>G polymorphism and 606G>C polymorphism in congenital heart disease (CHD) have been extensively studied, with conflicting results. The aim of the present study was to better elucidate the associations between NKX2-5 genetic polymorphisms and CHD risk through a meta-analysis. Eligible articles were searched in PubMed, MEDLINE, EMBASE, Google Scholar and CNKI up to December 2015. Odds ratios (ORs) and 95 % confidence intervals were used to detect any potential associations between NKX2-5 genetic polymorphisms and CHD risk. Heterogeneity between studies was assessed with Q test and I (2) statistic. Subgroup analysis and sensitivity analysis were performed to test the reliability and stability of the results, and funnel plots were applied to estimate publication bias. A total of 13 case-control studies including 2245 CHD patients and 1953 healthy controls were analyzed. The overall meta-analysis results showed that NKX2-5 63A>G polymorphism and 606G>C polymorphism were not significantly associated with CHD risk. Subgroup analysis was further performed for NKX2-5 63A>G polymorphism based on types of CHD and ethnicity of study population, and similar negative results were found in all subgroups. Our findings suggested that NKX2-5 63A>G polymorphism and 606G>C polymorphism may not be implicated in the pathogenesis of CHD.
authors.affiliation: Department of Cardiology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
authors.forename: Xiaochuan
authors.initials: X
authors.lastname: Xie
authors.affiliation: Division of Reproductive Medical Center, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
authors.forename: Xiaohan
authors.initials: X
authors.lastname: Shi
authors.affiliation: West China School of Public Health, Sichuan University, Chengdu, Sichuan, China.
authors.forename: Xiaoshuang
authors.initials: X
authors.lastname: Xun
authors.affiliation: Department of Cardiology, West China Hospital, Sichuan University, Chengdu, Sichuan, China. raoli8991@163.com.
authors.forename: Li
authors.initials: L
authors.lastname: Rao
mesh_terms: D005801:Genes, Homeobox; D020022:Genetic Predisposition to Disease; D006330:Heart Defects, Congenital / Q000235:genetics*; D000072576:Homeobox Protein Nkx-2.5; D006801:Humans; D011110:Polymorphism, Genetic; D015203:Reproducibility of Results; D012306:Risk
chemical_list: D000072576:Homeobox Protein Nkx-2.5; C095552:NKX2-5 protein, human
keywords: Congenital heart disease (CHD); Genetic polymorphisms; Meta-analysis; NKX2-5