5-羟色胺转运体基因长度多态性与孤独症谱系障碍易感性关系的Meta分析  

An Integrated Meta-analysis of the Association between 5-HTTLPR and Autism Spectrum Disorder

作　　者：莫胜男[1] 戚小兵[2] 邵珊珊[3] 孙昭[3] 宋然然[3] 

机构地区：[1]武汉大学人民医院,武汉430060 [2]广东省珠海市妇幼保健院,珠海519001 [3]华中科技大学同济医学院公共卫生学院儿少卫生与妇幼保健学系,武汉430030

出　　处：《华中科技大学学报（医学版）》2013年第2期181-186,共6页Acta Medicinae Universitatis Scientiae et Technologiae Huazhong

基　　金：国家自然科学基金资助项目(No.81273092)

摘　　要：目的采用Meta分析的方法综合评价5-羟色胺转运体基因长度多态性(5-hydroxytryptamine transporterlength polymorphism,5-HTTLPR)与孤独症谱系障碍(autism spectrum disorder,ASD)易感性之间的关系。方法在多个数据库中全面检索相关文献,收集2012年10月前有关5-HTTLPR与ASD易感性关系的病例对照研究及以家系为基础的传递/不平衡检验(TDT)的数据,采用R软件的Catmap软件包进行Meta分析。结果该研究共纳入25篇文献。Meta分析结果显示合并后OR值为1.10(95%CI=0.95～1.26,Pheterogeneity=0.000)。敏感性分析进一步表明该结果具有良好的稳定性。分层分析显示,病例对照研究和TDT研究的合并OR值分别为1.19(95%CI=0.83～1.72)和1.07(95%CI=0.92～1.25);样本量大于150和小于等于150的研究的合并OR值分别为1.14(95%CI=0.98～1.34)和1.09(95%CI=0.92～1.29);美洲人群、欧洲人群和亚洲人群的合并OR值分别为1.25(95%CI=1.12～1.40)、1.03(95%CI=0.84～1.28)和0.81(95%CI=0.66～0.99)。结论 5-HTTLPR与ASD易感性之间不存在明显关联,但这种关系在不同地域人群中可能存在较大差异。Objective To clarify the relationship between fi-hydroxytryptamine transporter length polymorphism（5-HTTL- PR） and autism spectrum disorder（ASD） by using a meta-analysis. Methods Multiple electronic databases were searched to re- trieve the literatures about the association between 5-HTTLPR and ASD susceptibility. These literatures were published before October 2012. Data of case-control studies and transmission/disequilibrium test（TDT） studies were collected and analyzed using the Catmap package in R software. Results Twenty-five studies were included in this recta-analysis. The combined result showed the lack of association between 5-HTTLPR and ASD（OR= 1.10,95 %CI= 0. 95-1.26, Phet＊mgendty = 0. 000） in the ran- dom-effects model and the sensitivity analysis further indicated the stability of this result. By stratified analysis, no evidence of significant association between this polymorphism and ASD was found either in the case-control studies（OR = 1.19,95 % CI= 0.83-1.72,） or in the TDT studies（OR= 1.07,95%CI= 0. 92-1. 25）. The pooled OR for studies of sample size 〉150 and sample size≤150 was 1.14（95%CI=0.98-1.34） and 1.09（95%CI=0. 92-1.29） ,respectively. However,the stratified anal- ysis by population source demonstrated that the significant association was present in American（OR = 1.25,95 % CI= 1.12- 1.40） and Asian（OR = 0. 81,95% CI= 0. 66 - 0. 99） populations, but for the European population, no positive result was ob- tained（OR=1 03,95%CI=0.84--1.28）. Conclusion 5-HTTLPR may not contribute to the risk of ASD. This association be- tween 5-HTTLPR and ASD susceptibility may vary across different populations.

关 键 词：孤独症谱系障碍 5-羟色胺转运体基因长度多态性 META分析 

分 类 号：R749.94[医药卫生—神经病学与精神病学]