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常见和罕见基因变异的神经表型

Neural phenotypes of common and rare genetic variants.

作者信息

Bearden Carrie E, Glahn David C, Lee Agatha D, Chiang Ming-Chang, van Erp Theo G M, Cannon Tyrone D, Reiss Allan L, Toga Arthur W, Thompson Paul M

机构信息

Department of Psychiatry & Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA, United States.

出版信息

Biol Psychol. 2008 Sep;79(1):43-57. doi: 10.1016/j.biopsycho.2008.02.005. Epub 2008 Feb 23.

Abstract

Neuroimaging methods offer a powerful way to bridge the gaps between genes, neurobiology and behavior. Such investigations may be further empowered by complementary strategies involving chromosomal abnormalities associated with particular neurobehavioral phenotypes, which can help to localize causative genes and better understand the genetics of complex traits in the general population. Here we review the evidence from studies using these convergent approaches to investigate genetic influences on brain structure: (1) studies of common genetic variations associated with particular neuroanatomic phenotypes, and (2) studies of possible 'genetic subtypes' of neuropsychiatric disorders with very high penetrance, with a focus on neuroimaging studies using novel computational brain mapping algorithms. Finally, we discuss the contribution of behavioral neurogenetics research to our understanding of the genetic basis of neuropsychiatric disorders in the broader population.

摘要

神经成像方法为弥合基因、神经生物学和行为之间的差距提供了一种强大的方式。涉及与特定神经行为表型相关的染色体异常的互补策略可能会进一步增强此类研究,这有助于定位致病基因并更好地理解普通人群复杂性状的遗传学。在这里,我们回顾了使用这些趋同方法研究基因对脑结构影响的研究证据:(1)与特定神经解剖学表型相关的常见基因变异的研究,以及(2)具有非常高外显率的神经精神疾病可能的“遗传亚型”的研究,重点是使用新型计算脑图谱算法的神经成像研究。最后,我们讨论了行为神经遗传学研究对我们理解更广泛人群中神经精神疾病遗传基础的贡献。

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