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精神科遗传学:争议中前行

Psychiatric genetics: progress amid controversy.

作者信息

Burmeister Margit, McInnis Melvin G, Zöllner Sebastian

机构信息

Molecular and Behavioral Neuroscience Institute, University of Michigan, 5061 BSRB, 109 Zina Pitcher Place, Ann Arbor, Michigan 48109-2200, USA.

出版信息

Nat Rev Genet. 2008 Jul;9(7):527-40. doi: 10.1038/nrg2381.

Abstract

Several psychiatric disorders--such as bipolar disorder, schizophrenia and autism--are highly heritable, yet identifying their genetic basis has been challenging, with most discoveries failing to be replicated. However, inroads have been made by the incorporation of intermediate traits (endophenotypes) and of environmental factors into genetic analyses, and through the identification of rare inherited variants and novel structural mutations. Current efforts aim to increase sample sizes by gathering larger samples for case-control studies or through meta-analyses of such studies. More attention on unique families, rare variants, and on incorporating environment and the emerging knowledge of biological function and pathways into genetic analysis is warranted.

摘要

几种精神疾病——如双相情感障碍、精神分裂症和自闭症——具有高度遗传性,但确定其遗传基础一直具有挑战性,大多数发现都无法被重复验证。然而,通过将中间性状(内表型)和环境因素纳入遗传分析,以及通过识别罕见的遗传变异和新的结构突变,已经取得了进展。目前的努力旨在通过收集更大的样本进行病例对照研究或通过对此类研究的荟萃分析来增加样本量。有必要更多地关注独特的家族、罕见变异,以及将环境和生物功能及通路的新知识纳入遗传分析。

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