The genetic architecture of structural left-right asymmetry of the human brain.
The genetic architecture of structural left-right asymmetry of the human brain.
复制标题
人类大脑左右结构不对称的遗传结构。
DOI：
10.1038/s41562-021-01069-w
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发表时间：
2021-09
影响因子：
29.9
通讯作者：
Francks C
中科院分区：
文献类型：
--
作者：
Sha Z;Schijven D;Carrion-Castillo A;Joliot M;Mazoyer B;Fisher SE;Crivello F;Francks C
左右半球的不对称是健康大脑组织的一个重要方面，包括语言在内的许多功能，它可以在认知和精神疾病中改变。目前还没有确定建立人脑左右轴的机制。我们使用来自英国生物银行的32，256名参与者的数据，对皮质区域表面积和厚度不对称性以及皮质下体积不对称性进行了多变量全基因组关联扫描。有21个显著的基因座与大脑不对称的不同方面相关，功能丰富，涉及微管相关基因和胚胎脑表达。这些发现与无脊椎动物和青蛙的其他器官中细胞骨架在左右轴确定中的已知作用一致。与大脑不对称相关的遗传变异与自闭症、教育程度和精神分裂症相关的遗传变异重叠。在未来的研究中可能需要相当大的数据集，以复制和进一步阐明微管相关基因与大脑不对称性，行为和精神特征变化的关联。与大脑不对称相关的基因与细胞的内部骨骼有关，并且在胚胎中特别活跃。其中一些基因与利手和精神疾病的风险有关。
Left–right hemispheric asymmetry is an important aspect of healthy brain organization for many functions including language, and it can be altered in cognitive and psychiatric disorders. No mechanism has yet been identified for establishing the human brain’s left–right axis. We performed multivariate genome-wide association scanning of cortical regional surface area and thickness asymmetries, and subcortical volume asymmetries, using data from 32,256 participants from the UK Biobank. There were 21 significant loci associated with different aspects of brain asymmetry, with functional enrichment involving microtubule-related genes and embryonic brain expression. These findings are consistent with a known role of the cytoskeleton in left–right axis determination in other organs of invertebrates and frogs. Genetic variants associated with brain asymmetry overlapped with those associated with autism, educational attainment and schizophrenia. Comparably large datasets will likely be required in future studies, to replicate and further clarify the associations of microtubule-related genes with variation in brain asymmetry, behavioural and psychiatric traits. Genes associated with brain asymmetry are involved with the internal skeletons of cells, and are especially active in the embryo. Some of these genes are associated with handedness and risk for psychiatric disorders.
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影响因子：
64.8
作者：
Bycroft C;Freeman C;Petkova D;Band G;Elliott LT;Sharp K;Motyer A;Vukcevic D;Delaneau O;O'Connell J;Cortes A;Welsh S;Young A;Effingham M;McVean G;Leslie S;Allen N;Donnelly P;Marchini J
通讯作者：
Marchini J
影响因子：
30.8
作者：
Bulik-Sullivan, Brendan K.;Loh, Po-Ru;Finucane, Hilary K.;Ripke, Stephan;Yang, Jian;Patterson, Nick;Daly, Mark J.;Price, Alkes L.;Neale, Benjamin M.
通讯作者：
Neale, Benjamin M.
影响因子：
7
作者：
Boyle AP;Hong EL;Hariharan M;Cheng Y;Schaub MA;Kasowski M;Karczewski KJ;Park J;Hitz BC;Weng S;Cherry JM;Snyder M
通讯作者：
Snyder M
影响因子：
11.2
作者：
De Fossé, L;Hodge, SM;Harris, GJ
通讯作者：
Harris, GJ
影响因子：
3.7
作者：
Ang, Su-Fen;Zhao, Zhuo-shen;Manser, Ed
通讯作者：
Manser, Ed