加拿大西蒙弗雷泽大学Lloyd T. Elliott小组取得一项新突破。他们对英国生物样本库的脑成像表型进行了扩展的全基因组关联研究。这一研究成果发表在2021年4月19日出版的国际学术期刊《自然-神经科学》上。

之前，研究人员发表了3144种脑成像衍生表型的全基因组关联研究，其包含8428个人的样本。

研究人员利用2020年发布的数据，建立了一个新的开放型全基因组关联研究统计摘要资源库，几乎增加了三倍的样本量。新研究中包括X染色体和成像衍生的新表型（皮层下体积和组织对比）。之前，研究发现了148个遗传变异和成像表型之间的关联复制簇。

在本研究中，研究人员发现了692关联簇，包括X染色体上的12个。研究人员描述了一些新发现的关联，重点是X染色体和常染色体关联，这些关联涉及成像衍生表型的新类别。例如，新发现的关联暗示了与罕见X连锁STAR（突触、畸形棘、肛门生殖器和肾脏畸形）综合征、阿尔茨海默氏病和线粒体疾病有关的途径。

据介绍，英国生物样本库是一项重大的前瞻性流行病学研究，包括多模式脑成像、遗传学和连续的健康结果。

附：英文原文

Title: An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank

Author: Stephen M. Smith, Gwenalle Douaud, Winfield Chen, Taylor Hanayik, Fidel Alfaro-Almagro, Kevin Sharp, Lloyd T. Elliott

Issue&Volume: 2021-04-19

Abstract: UK Biobank is a major prospective epidemiological study, including multimodal brain imaging, genetics and ongoing health outcomes. Previously, we published genome-wide associations of 3,144 brain imaging-derived phenotypes, with a discovery sample of 8,428 individuals. Here we present a new open resource of genome-wide association study summary statistics, using the 2020 data release, almost tripling the discovery sample size. We now include the X chromosome and new classes of imaging-derived phenotypes (subcortical volumes and tissue contrast). Previously, we found 148 replicated clusters of associations between genetic variants and imaging phenotypes; in this study, we found 692, including 12 on the X chromosome. We describe some of the newly found associations, focusing on the X chromosome and autosomal associations involving the new classes of imaging-derived phenotypes. Our novel associations implicate, for example, pathways involved in the rare X-linked STAR (syndactyly, telecanthus and anogenital and renal malformations) syndrome, Alzheimer’s disease and mitochondrial disorders.

DOI: 10.1038/s41593-021-00826-4

Source: https://www.nature.com/articles/s41593-021-00826-4