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摘要 : 一项对30,717人所做的这项全基因组关联研究,识别出了一些遗传变异体,它们都影响已知与运动、学习、记忆和动机相关的功能中所涉及的其中一些大脑皮层下区域的结构。

 一项对30,717人所做的这项全基因组关联研究,识别出了一些遗传变异体,它们都影响已知与运动、学习、记忆和动机相关的功能中所涉及的其中一些大脑皮层下区域的结构。这些结果让我们对造成人类脑发育之差异的原因有所认识,同时也许还能帮助阐释神经精神功能障碍的机制。尤其令人感兴趣的是影响“壳核”(putamen)、“尾状核”(caudate nucleus)大小和整个头围的六个新的基因位点。

Common genetic variants influence human subcortical brain structures

The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume and intracranial volume. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, wher a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 × 10−33; 0.52% variance explained) showed evidence of altering the expression of the KTN1gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability in human brain development, and may help to determine mechanisms of neuropsychiatric dysfunction.

对应Nature杂志: 2015年04月09日Nature杂志精选

来源: Nature 浏览次数:16


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