Discovery of genomic loci of the human cerebral cortex using genetically informed brain atlases.
Discovery of genomic loci of the human cerebral cortex using genetically informed brain atlases.
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DOI：
10.1126/science.abe8457
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发表时间：
2022-02-04
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影响因子：
--
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为了确定遗传变异对大脑的影响，我们在39，898名成人和9136名儿童的区域皮质表面积和厚度的全基因组关联研究中使用了遗传信息的大脑图谱。我们在发现队列中发现了440个全基因组显著位点，并从事后综合荟萃分析中发现了800个。成年期的基因座在很大程度上是在儿童时期被捕获的，显示出负选择的特征，并与早期神经发育和与神经精神风险相关的通路有关。表面积减少和厚度增加的相反程度与常见的倒置多态性有关。下额叶区域，包括布罗卡区，这是重要的讲话，丰富的人类特异性基因组元素。因此，保守的和人类特有的特征的混合遗传景观与大脑层次结构和形态发生梯度是一致的。遗传信息大脑图谱发现成人和青年皮质神经发育模式的新基因组位点。
To determine the impact of genetic variants on the brain, we used genetically-informed brain atlases in genome-wide association studies of regional cortical surface area and thickness in 39,898 adults and 9136 children. We uncovered 440 genome-wide significant loci in the discovery cohort and 800 from a post-hoc combined meta-analysis. Loci in adulthood were largely captured in childhood, showing signatures of negative selection, and were linked to early neurodevelopment and pathways associated with neuropsychiatric risk. Opposing gradations of decreased surface area and increased thickness were associated with common inversion polymorphisms. Inferior frontal regions, encompassing Broca’s area which is important for speech, were enriched for human-specific genomic elements. Thus a mixed genetic landscape of conserved and human-specific features is concordant with brain hierarchy and morphogenetic gradients. Genetically-informed brain atlases discover novel genomic loci of neurodevelopmental patterning in adult and youth cortex.
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影响因子：
11
作者：
International Obsessive Compulsive Disorder Foundation Genetics Collaborative (IOCDF-GC) and OCD Collaborative Genetics Association Studies (OCGAS)
通讯作者：
International Obsessive Compulsive Disorder Foundation Genetics Collaborative (IOCDF-GC) and OCD Collaborative Genetics Association Studies (OCGAS)
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：
4.4
作者：
de Jong S;Chepelev I;Janson E;Strengman E;van den Berg LH;Veldink JH;Ophoff RA
通讯作者：
Ophoff RA
影响因子：
30.8
作者：
Das, Sayantan;Forer, Lukas;Schoenherr, Sebastian;Sidore, Carlo;Locke, Adam E.;Kwong, Alan;Vrieze, Scott I.;Chew, Emily Y.;Levy, Shawn;McGue, Matt;Schlessinger, David;Stambolian, Dwight;Loh, Po-Ru;Iacono, William G.;Swaroop, Anand;Scott, Laura J.;Cucca, Francesco;Kronenberg, Florian;Boehnke, Michael;Abecasis, Goncalo R.;Fuchsberger, Christian
通讯作者：
Fuchsberger, Christian
影响因子：
2.6
作者：
Cellot G;Cherubini E
通讯作者：
Cherubini E