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本文引用的文献

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Adaptive evolution of genes underlying schizophrenia.精神分裂症相关基因的适应性进化
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The endophenotype concept in psychiatry: etymology and strategic intentions.精神病学中的内表型概念:词源与战略意图。
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精神分裂症和双相情感障碍中的精神病性内表型

Psychosis endophenotypes in schizophrenia and bipolar disorder.

作者信息

Thaker Gunvant

机构信息

Maryland Psychiatric Research Center, Department of Psychiatry, University of Maryland School of Medicine, PO Box 21247, Baltimore, MD 21228, USA.

出版信息

Schizophr Bull. 2008 Jul;34(4):720-1. doi: 10.1093/schbul/sbn055. Epub 2008 May 23.

DOI:10.1093/schbul/sbn055
PMID:18503040
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2632455/
Abstract

Recent studies provide considerable evidence that schizophrenia and bipolar disorder may share overlapping etiologic determinants. Identifying disease-related genetic effects is a major focus in schizophrenia and bipolar disorder research, with implications for clarifying diagnosis and developing specific treatments for various impairments in these 2 disorders. Efforts have been multifaceted, with the ultimate goal of describing causal paths from specific genetic variants, to changes in neuronal functioning, and to behavioral and functional impairments. Parallel efforts have identified and refined several alternative phenotypes that are stable, heritable, some with known biological substrates, and are associated with psychosis liability. These alternative phenotypes are likely to aid search for liability genes in schizophrenia and bipolar disorders and likely to be informative regarding the extent to which the 2 disorders share etio-pathophysiology.

摘要

近期研究提供了大量证据表明精神分裂症和双相情感障碍可能具有重叠的病因决定因素。识别与疾病相关的遗传效应是精神分裂症和双相情感障碍研究的主要重点,这对于明确诊断以及开发针对这两种疾病各种损伤的特定治疗方法具有重要意义。相关研究工作是多方面的,其最终目标是描述从特定基因变异到神经元功能变化,再到行为和功能损伤的因果路径。同时,也已经识别并完善了几种替代表型,这些表型稳定、可遗传,部分具有已知的生物学基础,并且与精神病易感性相关。这些替代表型可能有助于在精神分裂症和双相情感障碍中寻找易感性基因,并且可能为这两种疾病在病因病理生理学上的共享程度提供信息。