NKX2.5 基因c.63 A>G多态性与先天性心脏病关联性的荟萃分析  

Meta-analysis of association between NKX2.5 gene c.63 A>G polymorphism and congenital heart disease

作　　者：刘倩 裴建赢 樊文娟 易彬[2] LIU Qian;PEI Jianying;FAN Wenjuan;YI Bin(Research center,Gansu Provincial Maternity and Child-Care Hospital,Lanzhou 730050,Gansu,China;Pediatric Department,Gansu Provincial Maternity and Child-Care Hospital,Lanzhou 730050,Gansu,China)

机构地区：[1]甘肃省妇幼保健院科研中心,兰州730050 [2]甘肃省妇幼保健院儿科,兰州730050

出　　处：《临床检验杂志》2020年第3期235-238,共4页Chinese Journal of Clinical Laboratory Science

摘　　要：目的系统评价NKX2.5基因c.63 A>G多态性与先天性心脏病(CHD)发病风险的相关性。方法计算机检索PubMed、Web of Science、中国知网、万方等数据库,检索时限截至2019年5月31日,获取有关NKX2.5基因c.63 A>G多态性与CHD关联性的病例-对照研究,采用Stata 12.0软件进行荟萃(meta)分析。选择优势比(OR)和95%置信区间(CI)分析NKX2.5基因多态性与CHD的潜在发病风险,根据异质性检验结果选择固定或随机效应模型进行数据合并,并采用漏斗图和Egger′s检验评价发表偏倚。结果共纳入18篇文献,研究对象共计4 987例。Meta分析结果显示,NKX2.5基因c.63 A>G多态性与CHD发病风险无关联(GG vs AA:OR=1.13,95%CI:0.79~1.61,POR=0.494;GA vs AA:OR=1.05,95%CI:0.75~1.49,POR=0.77;G vs A:OR=1.09,95%CI:0.88~1.35,POR=0.415)。按照国别进行亚组分析结果显示,NKX2.5基因c.63 A>G多态性与CHD易感性在中国及非中国人群中均无相关性;而按照CHD疾病分型进行亚组分析显示,GA基因型的人群ASD发病风险低于AA基因型。结论 NKX2.5基因c.63 A>G多态性可能与ASD的发病有关,但仍需更大样本高质量的病例-对照研究进一步验证。Objective To systematically evaluate the association between c.63 A>G polymorphism of NKX2.5 gene and the risk of congenital heart disease(CHD).Methods The databases of PubMed,Web of Science,CNKI,Wangfang,etc.were searched by computer.By May 31,2019,the case-control studies on the association between c.63 A>G polymorphism of NKX2.5 gene and CHD were obtained.Meta-analysis was performed using Stata 12.0 software.The odds ratio(OR)and 95%confidence interval were used to analyze the NKX2.5 gene polymorphism and the potential risk of CHD.According to the heterogeneity test results,fixed or random effect model were selected for consolidation of data.The publication bias was assessed using funnel plot and an Egger′s test.Results A total of 18 articles were included in the study and 4987 cases were studied.The results of Meta-analysis showed that the NKX2.5 gene c.63 A>G polymorphism was not associated with the risk and the susceptibility to CHD in China(GG vs AA:OR=1.13,95%CI:0.79-1.61,P OR=0.494;GA vs AA:OR=1.05,95%CI:0.75-1.49,P OR=0.77;G vs A:OR=1.09,95%CI:0.88-1.35,P OR=0.415).According to the results of subgroup analysis for country,the polymorphism of NKX2.5 gene c.63 A>G was not correlated with CHD susceptibility in Chinese or non-Chinese populations.However,according to the subgroup analysis based on CHD disease classification,the risk of atrial septal defect(ASD)in the population with GA genotype was lower than that in the population with AA genotype.Conclusion The c.63 A>G polymorphism of NKX2.5 gene may be related to the incidence of ASD,but further validation for the conclusion is needed in multi-center,large-sample and high-quality case-control studies.

关 键 词：NKX2.5基因 先天性心脏病 单核苷酸多态性 荟萃分析 

分 类 号：R446[医药卫生—诊断学] R541.1[医药卫生—临床医学]