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一般人群 22824 名成年人的皮质结构的遗传相关性和全基因组关联分析。

Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults.

机构信息

Clinical Division of Neurogeriatrics, Department of Neurology, Medical University of Graz, Graz, Austria.

Institute for Medical Informatics, Statistics and Documentation, Medical University of Graz, Graz, Austria.

出版信息

Nat Commun. 2020 Sep 22;11(1):4796. doi: 10.1038/s41467-020-18367-y.

DOI:10.1038/s41467-020-18367-y
PMID:32963231
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7508833/
Abstract

Cortical thickness, surface area and volumes vary with age and cognitive function, and in neurological and psychiatric diseases. Here we report heritability, genetic correlations and genome-wide associations of these cortical measures across the whole cortex, and in 34 anatomically predefined regions. Our discovery sample comprises 22,824 individuals from 20 cohorts within the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium and the UK Biobank. We identify genetic heterogeneity between cortical measures and brain regions, and 160 genome-wide significant associations pointing to wnt/β-catenin, TGF-β and sonic hedgehog pathways. There is enrichment for genes involved in anthropometric traits, hindbrain development, vascular and neurodegenerative disease and psychiatric conditions. These data are a rich resource for studies of the biological mechanisms behind cortical development and aging.

摘要

皮质厚度、表面积和体积随年龄和认知功能以及神经和精神疾病而变化。在这里，我们报告了整个大脑皮层和 34 个解剖定义区域的这些皮质测量的遗传率、遗传相关性和全基因组关联。我们的发现样本包括来自基因组流行病学中的心脏和衰老研究队列（CHARGE）联盟和英国生物库的 20 个队列中的 22824 个人。我们确定了皮质测量值和脑区之间的遗传异质性，以及 160 个全基因组显著关联，这些关联指向 wnt/β-catenin、TGF-β 和 sonic hedgehog 途径。与人体测量特征、后脑发育、血管和神经退行性疾病以及精神疾病相关的基因富集。这些数据为研究皮质发育和衰老背后的生物学机制提供了丰富的资源。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14cf/7508833/6a3dce6f5857/41467_2020_18367_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14cf/7508833/342bc956d457/41467_2020_18367_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14cf/7508833/a8183e7e3c05/41467_2020_18367_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14cf/7508833/27cce7dcbb54/41467_2020_18367_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14cf/7508833/6a3dce6f5857/41467_2020_18367_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14cf/7508833/342bc956d457/41467_2020_18367_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14cf/7508833/a8183e7e3c05/41467_2020_18367_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14cf/7508833/27cce7dcbb54/41467_2020_18367_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14cf/7508833/6a3dce6f5857/41467_2020_18367_Fig4_HTML.jpg

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