The thalamus is a vital communication hub in the center of the brain and consists of distinct nuclei critical for consciousness and higher-order cortical functions. Structural and functional thalamic alterations are involved in the pathogenesis of common brain disorders, yet the genetic architecture of the thalamus remains largely unknown. Here, using brain scans and genotype data from 30,114 individuals, we identified 42 (41 novel) genetic loci and 392 genes associated with volumes of the thalamus and its nuclei. In an independent validation sample (n = 5,190) 96% of the loci showed the same effect direction (sign test, P = 8.6e-14). We mapped the genetic relationship between thalamic nuclei and 180 cerebral cortical areas and found overlapping genetic architectures consistent with thalamocortical connectivity. Pleiotropy analyses between thalamic volumes and ten psychiatric and neurological disorders revealed shared variants for all disorders. Together, these analyses identify the first genetic loci linked to thalamic nuclei and substantiate the emerging view of the thalamus having central roles in cortical functioning and common brain disorders.

中文翻译：

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人类丘脑的全基因组关联分析确定了新的基因组位点，并揭示了具有明显皮层区域和十种脑部疾病的遗传重叠

丘脑是大脑中枢的重要交流枢纽，由对意识和高级皮质功能至关重要的独特核组成。丘脑的结构和功能改变与常见脑部疾病的发病机制有关，但是丘脑的遗传结构仍然未知。在这里，使用来自30,114个个体的脑部扫描和基因型数据，我们确定了42个（41个新的）遗传基因座和392个与丘脑及其核的体积相关的基因。在独立的验证样本中（n = 5,190），有96％的基因座显示出相同的效应方向（符号检验，P= 8.6e-14）。我们绘制了丘脑核与180个大脑皮层区域之间的遗传关系图，发现与丘脑皮层连通性一致的重叠遗传结构。丘脑体积与十种精神病和神经病之间的多发性分析显示，所有疾病都有共同的变异。总之，这些分析确定了与丘脑核相关的第一个遗传基因座，并证实了丘脑的新出现观点，丘脑在皮层功能和常见脑部疾病中起着核心作用。