Department of Neurosciences, Faculty of Medicine, Université de Montréal, Montreal, Quebec H3C 3J7, Canada.
Prog Neuropsychopharmacol Biol Psychiatry. 2018 Jan 3;80(Pt B):101-114. doi: 10.1016/j.pnpbp.2017.02.026. Epub 2017 Mar 16.
Autism spectrum disorders (ASD) include a wide range of heterogeneous neurodevelopmental conditions that affect an individual in several aspects of social communication and behavior. Recent advances in molecular genetic technologies have dramatically increased our understanding of ASD etiology through the identification of several autism risk genes, most of which serve important functions in synaptic plasticity and protein synthesis. However, despite significant progress in this field of research, the characterization of the neurobiological mechanisms by which common genetic risk variants might operate to give rise to ASD symptomatology has proven to be far more difficult than expected. The imaging genetics approach holds great promise for advancing our understanding of ASD etiology by bridging the gap between genetic variations and their resultant biological effects on the brain. This paper provides a conceptual overview of the contribution of genetics in ASD and discusses key findings from the emerging field of imaging genetics.
自闭症谱系障碍（ASD）包括一系列广泛的异质神经发育状况，会影响个体在社会交往和行为的多个方面。分子遗传学技术的最新进展通过鉴定出几个自闭症风险基因，极大地提高了我们对 ASD 病因的理解，这些基因大多数在突触可塑性和蛋白质合成中发挥着重要作用。然而，尽管在这一研究领域取得了重大进展，但要确定常见遗传风险变异如何作用于 ASD 症状的神经生物学机制，证明比预期的要困难得多。影像遗传学方法通过弥合遗传变异与其对大脑产生的生物学效应之间的差距，为推进我们对 ASD 病因的理解提供了巨大的希望。本文提供了遗传学在 ASD 中的作用的概念概述，并讨论了新兴的影像遗传学领域的关键发现。
