中国抽动障碍患者基因组学研究现状的循证评价

Evidence based assessment of genomics in tic disorders in China

目的系统评价我国抽动障碍患者(TDs)基因组学的研究现状,总结疾病易感基因和药物治疗效果相关基因,为抽动障碍疾病的防治提供循证医学证据的参考。方法计算机检索Pubmend,Embase,Cochrane library,CBM,CNKI,VIP和万方数据库,检索时间为建库至2017年6月,纳入评价抽动疾病易感基因和药物疗效相关基因,对研究结果进行描述性分析。结果共纳入43篇文献,涉及3 723例抽动患者和2 433个家系,年龄3~22岁。发表时间为2001-2016年。仅44.2%(19/43)纳入研究为阳性结论,共涉及24个相关基因,仅发现4个与TDs疾病相关的阳性基因,1个与药物疗效相关的阳性基因,5个与TDs合并其他疾病相关的阳性基因。结论 TDs基因组学的研究发展较快,涉及的基因呈多样化、复杂化,但研究样本量不大、有价值的阳性基因较少,缺乏从基因研究到临床转化的标准路径和方法,建议开展多中心、大样本的临床研究以探索相关基因与TDs的关联,以提供高质量的循证医学证据来指导临床实践。

Objective To systematically review the current status of genomics research in patients with tic disorder （TDs） in China,and to summarize the genes related to disease susceptibility and the effects of drug treatment,so as to provide evidence for the prevention and treatment of TDs. Methods Pubmend,Embase,Cochrane library,CBM,CNKI,VIP,and Wanfang databases were searched from inception to July 2017.Studies which assessed the association between related genes and TDs were included and then descriptive analysis were used to summarize the result. Results A total of 43 studies involving 3 723 children and 2 433 families were included.The age of participants ranged from 3 to 22 years old.Publication time was between 2001 and 2016.Only 44.2% （19/43） included studies reported a positive Conclusion.Included studies involved 24 genes,only 4 positive genes were associated with TDs disease,1 positive gene was related to drug efficacy,5 positive genes were related to TDs with comorbidity. Conclusions The researches of genome in TDs develop rapidly,and the related genes are diverse and complicated.However,the sample size is small,and less positive genes are found,also there is a lack of the standard method and path for the clinical transformation from gene research to clinical practice.Most studies need to be validated by high-quality and large sample clinical studies in order to provide evidence to guide clinical practice.