Bakken Trygve E, Dale Anders M, Schork Nicholas J
The Scripps Translational Science Institute, La Jolla, Calif., USA.
Hum Hered. 2011;72(1):35-44. doi: 10.1159/000330168. Epub 2011 Aug 17.
Human skull and brain morphology are strongly influenced by genetic factors, and skull size and shape vary worldwide. However, the relationship between specific brain morphology and genetically-determined ancestry is largely unknown.
We used two independent data sets to characterize variation in skull and brain morphology among individuals of European ancestry. The first data set is a historical sample of 1,170 male skulls with 37 shape measurements drawn from 27 European populations. The second data set includes 626 North American individuals of European ancestry participating in the Alzheimer's Disease Neuroimaging Initiative (ADNI) with magnetic resonance imaging, height and weight, neurological diagnosis, and genome-wide single nucleotide polymorphism (SNP) data.
We found that both skull and brain morphological variation exhibit a population-genetic fingerprint among individuals of European ancestry. This fingerprint shows a Northwest to Southeast gradient, is independent of body size, and involves frontotemporal cortical regions.
Our findings are consistent with prior evidence for gene flow in Europe due to historical population movements and indicate that genetic background should be considered in studies seeking to identify genes involved in human cortical development and neuropsychiatric disease.
人类头骨和大脑形态受到遗传因素的强烈影响，并且头骨的大小和形状在全球范围内存在差异。然而，特定大脑形态与基因决定的祖先之间的关系在很大程度上尚不清楚。
我们使用了两个独立的数据集来描述欧洲血统个体的头骨和大脑形态变异。第一个数据集是一个历史样本，包含从27个欧洲人群中抽取的1170个男性头骨，并进行了37项形状测量。第二个数据集包括626名参与阿尔茨海默病神经影像学倡议（ADNI）的北美欧洲血统个体，他们有磁共振成像、身高和体重、神经学诊断以及全基因组单核苷酸多态性（SNP）数据。
我们发现，在欧洲血统个体中，头骨和大脑形态变异均呈现出群体遗传特征。这种特征呈现出从西北到东南的梯度，独立于体型，并且涉及额颞叶皮质区域。
我们的研究结果与欧洲历史上人口迁移导致基因流动的先前证据一致，并表明在旨在识别参与人类皮质发育和神经精神疾病的基因的研究中应考虑遗传背景。
