Zon & Schild, GGZ Centraal, Amersfoort, The Netherlands.
Department of Psychiatry, Amsterdam UMC, Amsterdam, Netherlands.
Mol Psychiatry. 2020 Oct;25(10):2237-2250. doi: 10.1038/s41380-020-0660-5. Epub 2020 Feb 4.
This umbrella review investigates which genetic factors are associated with drug-related movement disorders (DRMD), in an attempt to provide a synthesis of published evidence of candidate-gene studies. To identify all relevant meta-analyses, a literature search was performed. Titles and abstracts were screened by two authors and the methodological quality of included meta-analyses was assessed using 'the assessment of multiple systematic reviews' (AMSTAR) critical appraisal checklist. The search yielded 15 meta-analytic studies reporting on genetic variations in 10 genes. DRD3, DRD2, CYP2D6, HTR2A, COMT, HSPG2 and SOD2 genes have variants that may increase the odds of TD. However, these findings do not concur with early genome-wide association studies. Low-power samples are susceptible to 'winner's curse', which was supported by diminishing meta-analytic effects of several genetic variants over time. Furthermore, analyses pertaining to the same genetic variant were difficult to compare due to differences in patient populations, methods used and the choice of studies included in meta-analyses. In conclusion, DRMD is a complex phenotype with multiple genes that impact the probability of onset. More studies with larger samples using other methods than by candidate genes, are essential to developing methods that may predict the probability of DRMD. To achieve this, multiple research groups need to collaborate and a DRMD genetic database needs to be established in order to overcome winner's curse and publication bias, and to allow for stratification by patient characteristics. These endeavours may help the development of a test with clinical value in the prevention and treatment of DRMD.
这项伞式综述旨在调查哪些遗传因素与药物相关运动障碍(DRMD)有关,试图综合已发表的候选基因研究的证据。为了确定所有相关的荟萃分析,进行了文献检索。两位作者筛选了标题和摘要,并使用“多系统评价评估”(AMSTAR)关键评估清单评估了纳入荟萃分析的方法学质量。该搜索产生了 15 项荟萃分析研究,报告了 10 个基因中的遗传变异。DRD3、DRD2、CYP2D6、HTR2A、COMT、HSPG2 和 SOD2 基因的变异可能会增加 TD 的几率。然而,这些发现与早期的全基因组关联研究不一致。低功率样本容易受到“赢家诅咒”的影响,随着时间的推移,几个遗传变异的荟萃分析效应逐渐减弱,这支持了这一观点。此外,由于患者人群、使用的方法以及荟萃分析中纳入的研究选择的不同,针对同一遗传变异的分析也难以进行比较。总之,DRMD 是一种具有多个基因影响发病概率的复杂表型。需要更多使用其他方法而不是候选基因的大型样本研究,以开发可能预测 DRMD 概率的方法。为了实现这一目标,多个研究小组需要合作,建立一个 DRMD 遗传数据库,以克服赢家诅咒和发表偏倚,并允许按患者特征进行分层。这些努力可能有助于开发具有临床价值的测试,以预防和治疗 DRMD。