Department of Psychiatry, University of California, San Diego, La Jolla, California, USA.
Hum Brain Mapp. 2011 Apr;32(4):641-53. doi: 10.1002/hbm.21054.
Little is known about genetic influences on the volume of subcortical brain structures in adult humans, particularly whether there is regional specificity of genetic effects. Understanding patterns of genetic covariation among volumes of subcortical structures may provide insight into the development of individual differences that have consequences for cognitive and emotional behavior and neuropsychiatric disease liability. We measured the volume of 19 subcortical structures (including brain and ventricular regions) in 404 twins (110 monozygotic and 92 dizygotic pairs) from the Vietnam Era Twin Study of Aging and calculated the degree of genetic correlation among these volumes. We then examined the patterns of genetic correlation through hierarchical cluster analysis and by principal components analysis. We found that a model with four genetic factors best fit the data: a Basal Ganglia/Thalamus factor; a Ventricular factor; a Limbic factor; and a Nucleus Accumbens factor. Homologous regions from each hemisphere loaded on the same factors. The observed patterns of genetic correlation suggest the influence of multiple genetic influences. There is a genetic organization among structures which distinguishes between brain and cerebrospinal fluid spaces and between different subcortical regions. Further study is needed to understand this genetic patterning and whether it reflects influences on early development, functionally dependent patterns of growth or pruning, or regionally specific losses due to genes involved in aging, stress response, or disease.
目前对于成年人的皮质下脑结构体积的遗传影响知之甚少,特别是遗传效应是否具有区域特异性。了解皮质下结构体积的遗传相关性模式可能有助于深入了解导致认知和情绪行为以及神经精神疾病易感性个体差异的发展。我们测量了 19 个皮质下结构(包括大脑和脑室区域)的体积,这些结构来自于越南时代老化双胞胎研究中的 404 对双胞胎(110 对同卵双胞胎和 92 对异卵双胞胎),并计算了这些体积之间的遗传相关性程度。然后,我们通过层次聚类分析和主成分分析来检查遗传相关性模式。我们发现,一个包含四个遗传因素的模型最适合数据:基底节/丘脑因子;脑室因子;边缘系统因子;和伏隔核因子。每个半球的同源区域都加载在相同的因子上。观察到的遗传相关性模式表明存在多种遗传影响。结构之间存在遗传组织,可区分脑和脑脊液空间以及不同的皮质下区域。需要进一步研究以了解这种遗传模式,以及它是否反映了对早期发育、功能相关生长或修剪的影响,或者是否由于与衰老、应激反应或疾病相关的基因导致特定区域的损失。