The genetic architecture of brain structure and function is largely unknown. To investigate this, we carried out genome-wide association studies of 3,144 functional and structural brain imaging phenotypes from UK Biobank (discovery dataset 8,428 subjects). Here we show that many of these phenotypes are heritable. We identify 148 clusters of associations between single nucleotide polymorphisms and imaging phenotypes that replicate at P < 0.05, when we would expect 21 to replicate by chance. Notable significant, interpretable associations include: iron transport and storage genes, related to magnetic susceptibility of subcortical brain tissue; extracellular matrix and epidermal growth factor genes, associated with white matter micro-structure and lesions; genes that regulate mid-line axon development, associated with organization of the pontine crossing tract; and overall 17 genes involved in development, pathway signalling and plasticity. Our results provide insights into the genetic architecture of the brain that are relevant to neurological and psychiatric disorders, brain development and ageing.Genome-wide association studies of brain imaging data from 8,428 individuals in UK Biobank show that many of the 3,144 traits studied are heritable, and genes associated with individual phenotypes are identified.

中文翻译：

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英国生物银行脑成像表型的全基因组关联研究

大脑结构和功能的遗传结构在很大程度上是未知的。为了研究这一点，我们对来自英国生物银行的 3,144 个功能和结构脑成像表型进行了全基因组关联研究（发现数据集 8,428 名受试者）。在这里，我们表明许多这些表型是可遗传的。我们确定了单核苷酸多态性和成像表型之间的 148 个关联簇，这些关联在 P < 0.05 时复制，而我们预计 21 个是偶然复制的。显着的、可解释的关联包括：铁转运和储存基因，与皮层下脑组织的磁化率有关；细胞外基质和表皮生长因子基因，与白质微结构和病变相关；调节中线轴突发育的基因，与脑桥交叉道的组织有关；总共有 17 个基因参与发育、信号通路和可塑性。我们的研究结果提供了对与神经和精神疾病、大脑发育和衰老相关的大脑遗传结构的见解。对英国生物库中 8,428 名个体的大脑成像数据进行的全基因组关联研究表明，所研究的 3,144 种特征中有许多是可遗传的, 并确定了与个体表型相关的基因。