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精神分裂症遗传学:复杂疾病的新兴主题。

Schizophrenia genetics: emerging themes for a complex disorder.

机构信息

MRC centre for Neuropsychiatric Genetics and Genomics, and Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff, UK.

出版信息

Mol Psychiatry. 2015 Feb;20(1):72-6. doi: 10.1038/mp.2014.148. Epub 2014 Nov 11.

Abstract

After two decades of frustration, genetic studies of schizophrenia have entered an era of spectacular success. Advances in genotyping technologies and high throughput sequencing, increasing analytic rigour and collaborative efforts on a global scale have generated a profusion of new findings. The broad conclusions from these studies are threefold: (1) schizophrenia is a highly polygenic disorder with a complex array of contributing risk loci across the allelic frequency spectrum; (2) many psychiatric illnesses share risk genes and alleles, specifically, schizophrenia has substantial overlaps with bipolar disorder, intellectual disability, major depressive disorder and autism spectrum disorders; and (3) some convergent biological themes are emerging from studies of schizophrenia and related disorders. In this commentary, we focus on the very recent findings that have emerged in the past 12 months, and in particular, the areas of convergence that are beginning to emerge from multiple study designs.

摘要

经过二十年的挫折,精神分裂症的遗传研究已经进入了一个辉煌成功的时代。基因分型技术和高通量测序的进步、分析严谨性的提高以及全球范围内的合作努力,产生了大量新的发现。这些研究的广泛结论有三点:(1)精神分裂症是一种高度多基因疾病,在等位基因频率谱上有一系列复杂的致病风险位点;(2)许多精神疾病共享风险基因和等位基因,具体来说,精神分裂症与双相情感障碍、智力障碍、重度抑郁症和自闭症谱系障碍有很大的重叠;(3)从精神分裂症和相关疾病的研究中出现了一些趋同的生物学主题。在这篇评论中,我们重点介绍了过去 12 个月中出现的最新发现,特别是从多种研究设计中开始出现的趋同领域。

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