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精神分裂症中罕见的破坏性突变的多基因负担。

A polygenic burden of rare disruptive mutations in schizophrenia.

机构信息

1] Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA [2] Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA [3] Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA [4] Analytic and Translational Genetics Unit, Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA [5] Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.

1] Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA [2].

出版信息

Nature. 2014 Feb 13;506(7487):185-90. doi: 10.1038/nature12975. Epub 2014 Jan 22.

Abstract

Schizophrenia is a common disease with a complex aetiology, probably involving multiple and heterogeneous genetic factors. Here, by analysing the exome sequences of 2,536 schizophrenia cases and 2,543 controls, we demonstrate a polygenic burden primarily arising from rare (less than 1 in 10,000), disruptive mutations distributed across many genes. Particularly enriched gene sets include the voltage-gated calcium ion channel and the signalling complex formed by the activity-regulated cytoskeleton-associated scaffold protein (ARC) of the postsynaptic density, sets previously implicated by genome-wide association and copy-number variation studies. Similar to reports in autism, targets of the fragile X mental retardation protein (FMRP, product of FMR1) are enriched for case mutations. No individual gene-based test achieves significance after correction for multiple testing and we do not detect any alleles of moderately low frequency (approximately 0.5 to 1 per cent) and moderately large effect. Taken together, these data suggest that population-based exome sequencing can discover risk alleles and complements established gene-mapping paradigms in neuropsychiatric disease.

摘要

精神分裂症是一种常见疾病,病因复杂,可能涉及多种异质遗传因素。在这里,我们通过分析 2536 例精神分裂症病例和 2543 例对照的外显子组序列,证明了一种主要由罕见(低于万分之一)、破坏性突变引起的多基因负担,这些突变分布在许多基因中。特别富集的基因集包括电压门控钙离子通道和由突触后密度的活性调节细胞骨架相关支架蛋白(ARC)形成的信号复合物,这些基因集先前通过全基因组关联和拷贝数变异研究被涉及。与自闭症的报告类似,脆性 X 智力低下蛋白 (FMRP,FMR1 的产物) 的靶点突变富集。经过多次测试校正后,没有任何基于单个基因的测试达到显著水平,我们也没有检测到任何中等低频(约 0.5% 到 1%)和中等大效应的等位基因。综上所述,这些数据表明,基于人群的外显子组测序可以发现风险等位基因,并补充神经精神疾病中已建立的基因图谱范式。

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