Where Do We Stand in the Quest for Neuropsychiatric Biomarkers and Endophenotypes and What Next?
Where Do We Stand in the Quest for Neuropsychiatric Biomarkers and Endophenotypes and What Next?
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DOI：
10.1007/978-1-4020-9464-4_1
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发表时间：
2009-01-01
期刊：
影响因子：
--
通讯作者：
Gottesman, Irving I.
中科院分区：
文献类型：
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作者：
Ritsner, Michael S.;Gottesman, Irving I.
尽管生物标记物科学是一个在整个医学领域迅速发展的领域，但神经精神障碍的特点仍然是缺乏生物标记物和实验室测试，这些生物标记物和实验室测试将促进新的诊断和预后程序。基因组学、遗传学、表观遗传学、神经科学、蛋白质组学和代谢组学的最新进展为寻找生物标志物开辟了道路，但对神经精神病学来说，这仍然是一个相对较新的领域。此外，候选内表型是广泛用于遗传学研究的重要特征标记，对于开发可遗传的诊断和预后生物标记物(内表型策略)是有用的。本章提供了生物标记物和内表型的定义，阐明了它们的类型和特性，使它们在神经精神病学研究和实践中有用。精神分裂症和心境障碍文献的最新结果，说明了生物标记物和内表型的用处，也进行了综述。我们预测，生物标记物和内表型方法都将为遗传学、神经科学和“组学”优势在神经精神病学中的实际重要应用开辟新的途径。
Although biomarker science is a field that is advancing rapidly in medicine as a whole, neuropsychiatric disorders are still characterized by an absence of the biomarkers and laboratory tests that will promote new diagnostic and prognostic procedures. Recent advances in genomic, genetic, epigenetic, neuroscience, proteomic and metabolomic knowledge and technologies have opened the way to searching for biomarkers, however, it is still a relatively new field for neuropsychiatry. In addition, candidate endophenotypes, important trait markers widely used for genetic studies, are useful for the development of heritable diagnostic and prognostic biomarkers (endophenotype strategy). This chapter provides definitions of biomarkers and endophenotypes, elucidating their types and properties that will make them useful in neuropsychiatric research and practice. Recent results in the schizophrenia and mood disorders literature that illustrate the usefulness of biomarkers and endophenotypes are also reviewed. We predict that both biomarker and endophenotypic approaches will open new avenues for practically important applications of genetics, neuroscience and "omics" advantages in neuropsychiatry.