维生素D受体基因rs731236位点多态性与孤独症谱系障碍发病风险的meta分析  

Association between vitamin D receptor gene rs731236 polymorphism and risk of autism spectrum disorder:a meta-analysis

作　　者：陈艳琳 陈芊慧 候芳 李丽 CHEN Yan Lin;CHEN Qian Hui;HOU Fang;LI Li(Shenzhen Luohu Maternal and Child Health Care Hospital,Shenzhen 518019,Guangdong Province,China;School of Public Health,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430000,Hubei Province,China)

机构地区：[1]深圳市罗湖区妇幼保健院,广东深圳518019 [2]华中科技大学同济医学院公共卫生学院,湖北武汉430000

出　　处：《中国妇幼卫生杂志》2023年第6期46-53,共8页Chinese Journal of Women and Children Health

基　　金：深圳市科技计划基础研究面上项目(JCYJ20190812171201662)。

摘　　要：目的探讨维生素D受体(vitamin D receptor,VDR)基因rs731236位点多态性与孤独症谱系障碍(autism spectrum disorder,ASD)发病风险之间的相关性,为ASD的早期诊断和早期干预提供科学依据。方法通过中国知网、中文科技期刊数据库、万方数据知识服务平台、PubMed、Embase和Cochrane Library数据库检索关于VDR基因rs731236位点多态性与ASD发病风险关联的病例对照研究,检索时间均设定为建库至2023年7月。采用Stata 17.0软件进行meta分析,并对文献的敏感性和发表偏倚进行分析评估。结果共纳入8篇英文文献,包含研究对象2418人,其中病例组1252人、对照组1166人。VDR基因rs731236位点的等位基因模型(C vs.T,OR=1.322,95%CI:1.159~1.508)、纯合型(CC vs.TT,OR=1.795,95%CI:1.328~2.425)、显性模型(CT+CC vs.TT,OR=1.339,95%CI:1.126~1.593)和隐性模型(CC vs.TT+CT,OR=1.648,95%CI:1.242~2.187)与ASD发病风险相关。研究结果具有稳定性,未见明显的发表偏倚。结论VDR基因rs731236位点多态性与ASD发病风险有关,其中等位基因C、基因型CC或基因型CT+CC会增加ASD的发病风险,但仍需更大样本量和更多高质量的研究对该结果予以验证。Objective To explore the association between vitamin D receptor(VDR)gene rs731236 polymorphism and the risk of autism spectrum disorder(ASD),in order to provide scientific evidence for early diagnosis and intervention.Methods Case-control studies on the association between VDR gene rs731236 polymorphism and the risk of ASD were retrieved from China National Knowledge Internet,China Science and Technology Journal Database,WanFang Data Knowledge Service Platform,PubMed,Embase and Cochrane Library databases.The date was from the beginning of database set up till now.Meta-analysis,sensitivity and publication bias were performed using Stata 17.0 software.Results A total of 8 English papers were involved,including 2418 subjects(1252 cases and 1166 controls).The allele model(C vs.T,OR=1.322,95%CI:1.159−1.508),homozygous model(CC vs.TT,OR=1.795,95%CI:1.328−2.425),dominant model(CT+CC vs.TT,OR=1.339,95%CI:1.126−1.593)and recessive model(CC vs.TT+CT,OR=1.648,95%CI:1.242−2.187)of VDR gene rs731236 was associated with risk of ASD.The results showed stability and no significant publication bias was found.Conclusion VDR gene rs731236 polymorphism is associated with the risk of ASD.Allelic C,genotype CC,or genotype CT+CC can increase the risk of ASD,but larger sample size and more high-quality studies are still needed to validate the results.

关 键 词：孤独症谱系障碍 维生素D受体基因 多态性 META分析 

分 类 号：R749.94[医药卫生—神经病学与精神病学]