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Genetic control of variability in subcortical and intracranial volumes.
Molecular Psychiatry ( IF 9.6 ) Pub Date : 2020-02-11 , DOI: 10.1038/s41380-020-0664-1
Aldo Córdova-Palomera 1 , Dennis van der Meer 1, 2 , Tobias Kaufmann 1 , Francesco Bettella 1 , Yunpeng Wang 1, 3 , Dag Alnæs 1 , Nhat Trung Doan 1 , Ingrid Agartz 4, 5, 6 , Alessandro Bertolino 7, 8 , Jan K Buitelaar 9, 10 , David Coynel 11, 12 , Srdjan Djurovic 13, 14 , Erlend S Dørum 1, 15, 16 , Thomas Espeseth 15 , Leonardo Fazio 8 , Barbara Franke 17 , Oleksandr Frei 1 , Asta Håberg 18, 19 , Stephanie Le Hellard 13 , Erik G Jönsson 1, 5 , Knut K Kolskår 1, 15, 16 , Martina J Lund 1 , Torgeir Moberget 1, 15 , Jan E Nordvik 20 , Lars Nyberg 21 , Andreas Papassotiropoulos 11, 22, 23 , Giulio Pergola 8 , Dominique de Quervain 11, 12 , Antonio Rampino 8 , Genevieve Richard 1, 15, 16 , Jaroslav Rokicki 1, 15 , Anne-Marthe Sanders 1, 15, 16 , Emanuel Schwarz 24 , Olav B Smeland 1 , Vidar M Steen 13, 25 , Jostein Starrfelt 26 , Ida E Sønderby 1, 14 , Kristine M Ulrichsen 1, 15, 16 , Ole A Andreassen 1 , Lars T Westlye 1, 15
Affiliation  

Sensitivity to external demands is essential for adaptation to dynamic environments, but comes at the cost of increased risk of adverse outcomes when facing poor environmental conditions. Here, we apply a novel methodology to perform genome-wide association analysis of mean and variance in ten key brain features (accumbens, amygdala, caudate, hippocampus, pallidum, putamen, thalamus, intracranial volume, cortical surface area, and cortical thickness), integrating genetic and neuroanatomical data from a large lifespan sample (n = 25,575 individuals; 8-89 years, mean age 51.9 years). We identify genetic loci associated with phenotypic variability in thalamus volume and cortical thickness. The variance-controlling loci involved genes with a documented role in brain and mental health and were not associated with the mean anatomical volumes. This proof-of-principle of the hypothesis of a genetic regulation of brain volume variability contributes to establishing the genetic basis of phenotypic variance (i.e., heritability), allows identifying different degrees of brain robustness across individuals, and opens new research avenues in the search for mechanisms controlling brain and mental health.

中文翻译:

皮质下和颅内体积变异性的遗传控制。

对外部需求的敏感性对于适应动态环境至关重要,但其代价是在面对恶劣的环境条件时出现不利结果的风险增加。在这里,我们应用一种新的方法对十个关键大脑特征(伏隔核、杏仁核、尾状核、海马体、苍白球、壳核、丘脑、颅内体积、皮质表面积和皮质厚度)的均值和方差进行全基因组关联分析,整合来自大型寿命样本(n = 25,575 人;8-89 岁,平均年龄 51.9 岁)的遗传和神经解剖学数据。我们确定了与丘脑体积和皮质厚度的表型变异相关的遗传位点。方差控制基因座涉及在大脑和心理健康中具有记录作用的基因,并且与平均解剖体积无关。
更新日期:2020-02-11
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