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Incriminating Genomic Evidence

机译:证明基因组证据

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The genetic factors that contribute to schizophrenia can vary, making it difficult to pinpoint which DNA changes are the main culprits. Large genome-wide studies provide the most reliable clues yet. Schizophrenia is a chronic., debilitating illness with both neurological and psychiatric features, and it affects an estimated 1% of the world's population. Intense research into this disorder clearly points to the involvement of a significant genetic component, but genetic studies of schizophrenia have generally been disappointing as the data obtained often cannot be reproduced1. This lack of progress in understanding the genetic aspects of schizophrenia - which perhaps partially reflects challenges in diagnosis - is mainly due to the genetic heterogeneity among patients; many different genes might be involved in the disorder, but in a given family perhaps just one or a few of these genes mediate schizophrenia. Furthermore, previous studies have tended to be of limited statistical power and suboptimal design. Reporting in this issue, Stefansson et al. and the International Schizophrenia Consortium show that genome-wide studies of thousands of patients not only can confirm the association between previously identified genetic loci and the disease, but can also identify new loci.
机译:导致精神分裂症的遗传因素可能会有所不同,因此很难确定哪些DNA变化是主要罪魁祸首。大型的全基因组研究提供了迄今为止最可靠的线索。精神分裂症是一种慢性神经衰弱性疾病,具有神经和精神病学特征,估计会影响全世界1%的人口。对这种疾病的大量研究清楚地表明了一个重要的遗传因素的参与,但是精神分裂症的遗传研究通常令人失望,因为所获得的数据通常无法复制1。缺乏理解精神分裂症遗传方面的进展-可能部分反映了诊断方面的挑战-主要是由于患者之间的遗传异质性;疾病可能涉及许多不同的基因,但在一个给定的家庭中,这些基因中可能只有一个或几个介导精神分裂症。此外,先前的研究倾向于统计能力有限且设计欠佳。关于这个问题的报道,Stefansson等。国际精神分裂症协会和国际精神分裂症协会表明,对数千名患者进行的全基因组研究不仅可以确认以前确定的遗传基因座与疾病之间的关联,还可以确定新的基因座。

著录项

  • 来源
    《Nature》 |2008年第7210期|p.178-179|共2页
  • 作者

    James R. Lupski;

  • 作者单位

    Harvard-Smithsonian Center for Astrophysics, Cambridge,Massachusetts 02138, USA;

  • 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;
  • 关键词

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