1] Human Genetics and Cognitive Functions, Neuroscience Department, Institut Pasteur, Paris, France [2] CNRS URA 2182 'Genes, synapses and cognition', Paris, France [3] Université Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France.
1] Henry H. Wheeler, Jr. Brain Imaging Center, University of California at Berkeley, Berkeley, CA, USA [2] Neurospin, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, Paris, France.
Mol Psychiatry. 2015 Aug;20(8):1011-6. doi: 10.1038/mp.2014.99. Epub 2014 Sep 16.
Human brain anatomy is strikingly diverse and highly inheritable: genetic factors may explain up to 80% of its variability. Prior studies have tried to detect genetic variants with a large effect on neuroanatomical diversity, but those currently identified account for <5% of the variance. Here, based on our analyses of neuroimaging and whole-genome genotyping data from 1765 subjects, we show that up to 54% of this heritability is captured by large numbers of single-nucleotide polymorphisms of small-effect spread throughout the genome, especially within genes and close regulatory regions. The genetic bases of neuroanatomical diversity appear to be relatively independent of those of body size (height), but shared with those of verbal intelligence scores. The study of this genomic architecture should help us better understand brain evolution and disease.
遗传因素可能解释大脑解剖结构 80%的可变性。先前的研究试图检测对神经解剖多样性有重大影响的遗传变异，但目前已鉴定出的遗传变异仅占变异的<5%。在这里，基于我们对 1765 名受试者的神经影像学和全基因组基因分型数据的分析，我们表明，这种遗传性中有高达 54%可以通过大量分布在整个基因组中的、具有小效应的单核苷酸多态性来捕获，尤其是在基因和临近调控区域内。神经解剖多样性的遗传基础似乎与身体大小（身高）的遗传基础相对独立，但与言语智力评分的遗传基础共享。对这种基因组结构的研究应该有助于我们更好地理解大脑进化和疾病。
