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首页> 外文期刊>Nature >Rare Chromosomal Deletions And Duplications Increase Risk Of Schizophrenia
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Rare Chromosomal Deletions And Duplications Increase Risk Of Schizophrenia

机译：罕见的染色体缺失和重复会增加精神分裂症的风险

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Schizophrenia is a severe mental disorder marked by hallucinations, delusions, cognitive deficits and apathy, with a heritability estimated at 73-90% (ref. 1). Inheritance patterns are complex, and the number and type of genetic variants involved are not understood. Copy number variants (CNVs) have been identified in individual patients with schizophrenia and also in neurode-velopmental disorders, but large-scale genome-wide surveys have not been performed. Here we report a genome-wide survey of rare CNVs in 3,391 patients with schizophrenia and 3,181 ancestrally matched controls, using high-density microarrays. For CNVs that were observed in less than 1% of the sample and were more than 100 kilobases in length, the total burden is increased 1.15-fold in patients with schizophrenia in comparison with controls. This effect was more pronounced for rarer, single-occurrence CNVs and for those that involved genes as opposed to those that did not. As expected, deletions were found within the region critical for velo-cardio-facial syndrome, which includes psychotic symptoms in 30% of patients. Associations with schizophrenia were also found for large deletions on chromosome 15ql3.3 and lq21.1. These associations have not previously been reported, and they remained significant after genome-wide correction. Our results provide strong support for a model of schizophrenia pathogenesis that includes the effects of multiple rare structural variants, both genome-wide and at specific loci.
机译：精神分裂症是一种严重的精神障碍，以幻觉，妄想，认知缺陷和冷漠为特征，遗传力估计为73-90％（参考文献1）。遗传模式很复杂，涉及的遗传变异的数量和类型尚不清楚。已经在精神分裂症的个别患者以及神经退行性疾病中确定了拷贝数变异（CNV），但尚未进行大规模的全基因组调查。在这里，我们报告了使用高密度微阵列对3,391例精神分裂症患者和3,181例祖先匹配的对照中的罕见CNV进行全基因组调查。对于在不到1％的样本中观察到且长度超过100千个碱基的CNV，与对照相比，精神分裂症患者的总负担增加了1.15倍。对于罕见的单次发生CNV以及涉及基因的CNV，与不涉及基因的CNV相比，这种影响更为明显。如预期的那样，在严重的心面部综合征综合征的关键区域发现了缺失，其中30％的患者患有精神病性症状。还发现与精神分裂症有关的染色体15ql3.3和lq21.1的大量缺失。这些关联以前没有被报道过，并且在全基因组校正后仍然很重要。我们的结果为精神分裂症发病机理模型提供了有力的支持，其中包括多种罕见的结构变异（全基因组范围和特定基因座）的影响。

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    《Nature》 |2008年第7210期|p.237-241|共5页
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  • 收录信息 美国《科学引文索引》(SCI);美国《工程索引》(EI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 自然科学总论;
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