Genomic insights into the overlap between psychiatric disorders: implications for research and clinical practice.
Genomic insights into the overlap between psychiatric disorders: implications for research and clinical practice.
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作者：
Doherty JL;Owen MJ
精神分裂症、双相情感障碍、重度抑郁症、注意力缺陷/多动症和自闭症谱系障碍等精神疾病很常见，并导致显着的发病率和死亡率。尽管目前被分为不同的疾病类别，但它们表现出临床重叠和家族共聚集，并且具有共同的遗传风险因素。精神病学基因组学的最新进展让我们深入了解这些疾病之间重叠的潜在机制，涉及神经发育、突触可塑性、学习和记忆的基因。此外，来自拷贝数变异、外显子组测序和全基因组关联研究的证据支持以突变负荷或突变严重程度以及认知障碍为索引的神经发育精神病理学梯度。这些发现对精神病学研究具有重要意义，强调需要新方法对患者进行分层研究。他们还为旨在增进我们对从基因型到临床表型的途径的理解的工作指明了方向，这将是为新的分类系统提供信息并开发新的治疗策略所必需的。
Psychiatric disorders such as schizophrenia, bipolar disorder, major depressive disorder, attention-deficit/hyperactivity disorder and autism spectrum disorder are common and result in significant morbidity and mortality. Although currently classified into distinct disorder categories, they show clinical overlap and familial co-aggregation, and share genetic risk factors. Recent advances in psychiatric genomics have provided insight into the potential mechanisms underlying the overlap between these disorders, implicating genes involved in neurodevelopment, synaptic plasticity, learning and memory. Furthermore, evidence from copy number variant, exome sequencing and genome-wide association studies supports a gradient of neurodevelopmental psychopathology indexed by mutational load or mutational severity, and cognitive impairment. These findings have important implications for psychiatric research, highlighting the need for new approaches to stratifying patients for research. They also point the way for work aiming to advance our understanding of the pathways from genotype to clinical phenotype, which will be required in order to inform new classification systems and to develop novel therapeutic strategies.
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5
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