Johnstone Mandy, Maclean Alan, Heyrman Lien, Lenaerts An-Sofie, Nordin Annelie, Nilsson Lars-Göran, De Rijk Peter, Goossens Dirk, Adolfsson Rolf, St Clair David M, Hall Jeremy, Lawrie Stephen M, McIntosh Andrew M, Del-Favero Jurgen, Blackwood Douglas H R, Pickard Benjamin S
Division of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, Edinburgh, UK; Medical Genetics, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Applied Molecular Genomics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium; University of Antwerp, Antwerp, Belgium.
Mol Neuropsychiatry. 2015 Oct;1(3):175-190. doi: 10.1159/000438788. Epub 2015 Oct 7.
Robust statistical, genetic and functional evidence supports a role for in the aetiology of major mental illness. Furthermore, many of its protein-binding partners show evidence for involvement in the pathophysiology of a range of neurodevelopmental and psychiatric disorders. Copy number variants (CNVs) are suspected to play an important causal role in these disorders. In this study, CNV analysis of and its binding partners and in Scottish and Northern Swedish population-based samples was carried out using multiplex amplicon quantification. Here, we report the finding of rare CNVs in (together with adjacent genes within the 16p13.11 duplication), (including the overlapping gene) and . Our findings provide further evidence for involvement of and its interaction partners in neuropsychiatric disorders and also for a role of structural variants in the aetiology of these devastating diseases.
强有力的统计学、遗传学和功能学证据支持[具体内容缺失]在重度精神疾病病因学中发挥作用。此外,其许多蛋白质结合伙伴显示出参与一系列神经发育和精神疾病病理生理学的证据。拷贝数变异(CNV)被怀疑在这些疾病中起重要的因果作用。在本研究中,使用多重扩增子定量法对苏格兰和瑞典北部基于人群的样本中的[具体内容缺失]及其结合伙伴[具体内容缺失]和[具体内容缺失]进行了CNV分析。在此,我们报告在[具体内容缺失](连同16p13.11重复内的相邻基因)、[具体内容缺失](包括重叠的[具体基因缺失]基因)和[具体内容缺失]中发现罕见CNV。我们的发现为[具体内容缺失]及其相互作用伙伴参与神经精神疾病提供了进一步证据,也为结构变异在这些毁灭性疾病病因学中的作用提供了证据。