作为表型的大脑解剖发育轨迹。

Jay N Giedd, Rhoshel K Lenroot, Philip Shaw, Francois Lalonde, Mark Celano, Samantha White, Julia Tossell, Anjene Addington, Nitin Gogtay
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引用次数: 0

摘要

许多认知、情感和行为特征以及精神疾病都具有高度遗传性。然而,确定这种遗传性的具体基因和机制却一直难以捉摸。要使这一问题变得更容易解决,一种方法是尝试识别和量化从基因到行为路径上的中间步骤的生物标记。神经影像学领域提供了几种解剖学和生理学上的量化可能性。这些中间表型的理想特征是随时间变化的稳定性。然而,在本文中,我们将讨论观察大脑解剖学发展轨迹(即形态学随时间的变化)的价值,而不是静态的表型测量。本文以典型发育、注意力缺陷/多动症和儿童期精神分裂症的纵向解剖磁共振成像研究为例,证明了大脑发育轨迹作为连接健康和疾病中基因与行为的表型桥梁的实用性。
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Trajectories of anatomic brain development as a phenotype.

Many cognitive, emotional and behavioural traits, as well as psychiatric disorders are highly heritable. However, identifying the specific genes and mechanisms by which this heritability manifests has been elusive. One approach to make this problem more tractable has been to attempt to identify and quantify biological markers that are intermediate steps along the gene-to-behaviour path. The field of neuroimaging offers several anatomic and physiologic possibilities to quantify. Stability over time has been proposed as a desired feature for these intermediate phenotypes. However, in this paper we discuss the value of looking at trajectories of anatomic brain development (i.e. morphometric changes over time), as opposed to static measures, as a phenotype. Examples drawn from longitudinal anatomic magnetic resonance imaging studies of typical development, attention deficit/hyperactivity disorder, and childhood-onset schizophrenia are used to demonstrate the utility of trajectories of brain development as a phenotypic bridge between genes and behaviour in health and in illness.

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