Objective: Genetic factors play a substantial role in the etiology of autism and its co-occurrence with other conditions and traits. The autism polygenic score, derived from the latest autism case-control meta-genome-wide association studies, captures some of the accumulated influence of common genetic variants on autism. We reviewed and meta-analyzed published studies that assessed the relationship between this autism polygenic score and autism diagnosis, and autistic, behavioral and neurobiological traits. Method: Systematically searching public databases, we identified 72 studies and > 750 outcome measures. Included studies received a quality assessment. Results: The majority of included studies were rated as good quality. The autism polygenic score was most strongly associated with autism diagnosis (meta-analytic r = .162, 95% CI .066 - .258). The autism polygenic score was also significantly associated with autistic traits but to a lesser degree than for autism (meta-analytic r = .042 (95% CI .004 - .081). Associations with other outcomes were inconsistent and meta-analytic effect sizes were generally small (median r = .03). Conclusion: We conclude that the current autism polygenic score is consistently associated with autism diagnostic status and autistic traits, but overlap between autism and other traits and conditions is not, from publications to date, explained significantly by the autism polygenic score. When compared to other mental conditions, autism is phenotypically and etiologically heterogeneous, which might drive the relatively modest associations observed with the autism polygenic score to date.

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系统回顾和荟萃分析：使用自闭症多基因评分的研究

目的：遗传因素在自闭症的病因及其与其他病症和特征的共存中发挥着重要作用。自闭症多基因评分源自最新的自闭症病例对照全基因组关联研究，捕捉了常见遗传变异对自闭症的一些累积影响。我们回顾并荟萃分析了已发表的研究，这些研究评估了自闭症多基因评分与自闭症诊断以及自闭症、行为和神经生物学特征之间的关系。方法：系统地搜索公共数据库，我们确定了 72 项研究和 > 750 项结果指标。纳入的研究接受了质量评估。结果：大多数纳入的研究被评为质量良好。自闭症多基因评分与自闭症诊断密切相关（荟萃分析 r = .162，95% CI .066 - .258）。自闭症多基因评分也与自闭症特征显着相关，但程度低于自闭症（荟萃分析 r = .042 (95% CI .004 - .081)。与其他结果的关联不一致，荟萃分析效应大小一般较小（中位数 r = .03）。结论：我们得出的结论是，当前的自闭症多基因评分与自闭症诊断状态和自闭症特征一致相关，但从迄今为止的出版物来看，自闭症与其他特征和状况之间的重叠并未得到解释与其他精神状况相比，自闭症在表型和病因学上具有异质性，这可能导致迄今为止观察到的与自闭症多基因评分相对较小的关联。