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No evidence that common genetic risk variation is shared between schizophrenia and autism

机译:没有证据表明精神分裂症和自闭症有共同的遗传风险变异

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The similarity between aspects of the clinical presentation of schizophrenia and autism spectrum disorders (ASD) suggests that elements of the biological etiology may also be shared between these two disorders. Recently, an increasing number of rare, mostly structural genetic variants are reported to increase the risk of both schizophrenia and ASD. We hypothesized that given this evidence for a shared genetic background based on rare genetic variants, common risk alleles may also be shared between ASD and schizophrenia. To test this hypothesis, the polygenic score, which summarizes the collective effect of a large number of common risk alleles, was used. We examined whether the polygenic score derived from a schizophrenia case-control dataset, previously reported by Purcell et al., was able to differentiate ASD cases from controls. The results demonstrate that the schizophrenia-derived polygenic score is not different between ASD cases and controls, indicating that there is no important sharing of common risk alleles between the two neuropsychiatric disorders. Possibly, common risk alleles are less important in ASD in comparison to their more prominent role in schizophrenia and bipolar disorders. These findings provide important novel insights into shared and distinct elements of the genetic architecture of autism and schizophrenia.
机译:精神分裂症和自闭症谱系障碍(ASD)的临床表现各方面之间的相似性表明,生物学病因的要素也可能在这两种障碍之间共享。最近,据报道越来越多的罕见的,主要是结构性的遗传变异会增加精神分裂症和自闭症的风险。我们假设给定基于罕见遗传变异的共有遗传背景的证据,ASD和精神分裂症之间也可能共享共同风险等位基因。为了检验这一假设,使用了多基因评分,该评分总结了许多常见风险等位基因的集体效应。我们检查了先前由Purcell等人报道的来自精神分裂症病例对照数据集的多基因评分是否能够区分ASD病例与对照。结果表明,精神分裂症衍生的多基因评分在ASD病例和对照组之间没有差异,表明两种神经精神疾病之间没有共同危险等位基因的重要共享。相比于在精神分裂症和双相情感障碍中更为突出的作用,常见风险等位基因可能在ASD中不那么重要。这些发现为自闭症和精神分裂症的遗传结构的共同且独特的要素提供了重要的新颖见解。

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