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Phenotypic and genetic associations of quantitative magnetic susceptibility in UK Biobank brain imaging
Nature Neuroscience ( IF 21.2 ) Pub Date : 2022-05-23 , DOI: 10.1038/s41593-022-01074-w
Chaoyue Wang 1 , Aurea B Martins-Bach 1 , Fidel Alfaro-Almagro 1 , Gwenaëlle Douaud 1 , Johannes C Klein 1, 2 , Alberto Llera 3 , Cristiana Fiscone 4, 5 , Richard Bowtell 4 , Lloyd T Elliott 6 , Stephen M Smith 1 , Benjamin C Tendler 1 , Karla L Miller 1
Affiliation  

A key aim in epidemiological neuroscience is identification of markers to assess brain health and monitor therapeutic interventions. Quantitative susceptibility mapping (QSM) is an emerging magnetic resonance imaging technique that measures tissue magnetic susceptibility and has been shown to detect pathological changes in tissue iron, myelin and calcification. We present an open resource of QSM-based imaging measures of multiple brain structures in 35,273 individuals from the UK Biobank prospective epidemiological study. We identify statistically significant associations of 251 phenotypes with magnetic susceptibility that include body iron, disease, diet and alcohol consumption. Genome-wide associations relate magnetic susceptibility to 76 replicating clusters of genetic variants with biological functions involving iron, calcium, myelin and extracellular matrix. These patterns of associations include relationships that are unique to QSM, in particular being complementary to T2* signal decay time measures. These new imaging phenotypes are being integrated into the core UK Biobank measures provided to researchers worldwide, creating the potential to discover new, non-invasive markers of brain health.



中文翻译:


英国生物银行脑成像中定量磁化率的表型和遗传关联



流行病学神经科学的一个关键目标是识别标记物以评估大脑健康和监测治疗干预措施。定量磁化率测绘(QSM)是一种新兴的磁共振成像技术,可测量组织磁化率,并已被证明可以检测组织铁、髓磷脂和钙化的病理变化。我们提供了来自英国生物银行前瞻性流行病学研究的 35,273 名个体的基于 QSM 的多个大脑结构成像测量的开放资源。我们确定了 251 种表型与磁化率之间的统计显着关联,其中包括体内铁、疾病、饮食和饮酒。全基因组关联将磁敏感性与 76 个具有涉及铁、钙、髓磷脂和细胞外基质等生物学功能的遗传变异复制簇联系起来。这些关联模式包括 QSM 特有的关系,特别是与 T2* 信号衰减时间测量的补充。这些新的成像表型正在被整合到向世界各地的研究人员提供的英国生物库的核心测量中,从而创造了发现新的、非侵入性的大脑健康标志物的潜力。

更新日期:2022-05-24
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