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Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

机译:普通人群自闭症谱系障碍和神经精神病学变异的遗传风险

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摘要

Almost all genetic risk factors for autism spectrum disorders (ASDs) can be found in the general population, but the effects of that risk are unclear in people not ascertained for neuropsychiatric symptoms. Using several large ASD consortia and population based resources (total n>38,000), we find genomewide genetic links between ASDs and typical variation in social behavior and adaptive functioning. This finding is evidenced through both LD score correlation and de novo variant analysis, indicating that multiple types of genetic risk for ASDs influence a continuum of behavioral and developmental traits, the severe tail of which can result in an ASD or other neuropsychiatric disorder diagnosis. A continuum model should inform the design and interpretation of studies of neuropsychiatric disease biology.
机译:自闭症谱系障碍(ASD)的几乎所有遗传风险因素都可以在普通人群中找到,但是对于不确定神经精神症状的人,这种风险的影响尚不清楚。使用几个大型的ASD联合体和基于人口的资源(总数n> 38,000),我们发现ASD与社会行为和适应功能的典型变异之间的全基因组遗传联系。 LD得分相关性和从头变异分析都证明了这一发现,表明ASD的多种遗传风险会影响行为和发育特征的连续性,严重的尾巴可导致ASD或其他神经精神疾病的诊断。连续模型应为神经精神疾病生物学研究的设计和解释提供依据。

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