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英国生物库脑成像中定量磁化率的表型和遗传关联。

Phenotypic and genetic associations of quantitative magnetic susceptibility in UK Biobank brain imaging.

机构信息

Wellcome Centre for Integrative Neuroimaging, FMRIB, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.

Oxford Parkinson's Disease Centre, University of Oxford, Oxford, UK.

出版信息

Nat Neurosci. 2022 Jun;25(6):818-831. doi: 10.1038/s41593-022-01074-w. Epub 2022 May 23.


DOI:10.1038/s41593-022-01074-w
PMID:35606419
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9174052/
Abstract

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.

摘要

流行病学神经科学的一个主要目标是确定标志物,以评估大脑健康并监测治疗干预措施。定量磁化率映射(QSM)是一种新兴的磁共振成像技术,可测量组织磁化率,并已被证明可检测组织铁、髓鞘和钙化的病理性变化。我们提供了来自英国生物库前瞻性流行病学研究的 35273 个人的多个脑结构的基于 QSM 的成像测量的开放资源。我们确定了与 251 种表型的统计显著关联,这些表型包括体内铁、疾病、饮食和酒精摄入。全基因组关联将磁化率与涉及铁、钙、髓鞘和细胞外基质的 76 个复制遗传变异簇相关联。这些关联模式包括 QSM 特有的关系,特别是与 T2*信号衰减时间测量互补。这些新的成像表型正在整合到全球研究人员提供的核心英国生物库测量中,从而有潜力发现新的、非侵入性的大脑健康标志物。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc47/9174052/7a3e30ba7f79/41593_2022_1074_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc47/9174052/ec58656f840f/41593_2022_1074_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc47/9174052/e5db0df5a3fe/41593_2022_1074_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc47/9174052/89fe77ea5492/41593_2022_1074_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc47/9174052/dec922ac678c/41593_2022_1074_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc47/9174052/e354e3c85ba1/41593_2022_1074_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc47/9174052/7a3e30ba7f79/41593_2022_1074_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc47/9174052/ec58656f840f/41593_2022_1074_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc47/9174052/e5db0df5a3fe/41593_2022_1074_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc47/9174052/89fe77ea5492/41593_2022_1074_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc47/9174052/dec922ac678c/41593_2022_1074_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc47/9174052/e354e3c85ba1/41593_2022_1074_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fc47/9174052/7a3e30ba7f79/41593_2022_1074_Fig6_HTML.jpg

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引用本文的文献

[1]
The role of low subcortical iron, white matter myelin, and oligodendrocytes in schizophrenia: a quantitative susceptibility mapping and diffusion tensor imaging study.

Mol Psychiatry. 2025-9-5

[2]
Characterizing spatiotemporal white matter hyperintensity pathophysiology in vivo to disentangle vascular and neurodegenerative contributions.

medRxiv. 2025-6-11

[3]
Iron Deficiency Without Anemia and Reduced Basal Ganglia Iron Content in Youths.

JAMA Netw Open. 2025-6-2

[4]
Advances in magnetic resonance imaging of the developing brain and its applications in pediatrics.

World J Pediatr. 2025-5-30

[5]
Cognitive implications and associated transcriptomic signatures of distinct regional iron depositions in cerebral small vessel disease.

Alzheimers Dement. 2025-4

[6]
A genetically informed brain atlas for enhancing brain imaging genomics.

Nat Commun. 2025-4-14

[7]
Brain Imaging and Phenotyping for the China Phenobank Project.

Phenomics. 2025-1-2

[8]
Individualised prediction of longitudinal change in multimodal brain imaging.

Imaging Neurosci (Camb). 2024-7-3

[9]
Redox imbalance drives magnetic property and function changes in mice.

Redox Biol. 2025-4

[10]
Genetic Markers of Postmortem Brain Iron.

J Neurochem. 2025-2

本文引用的文献

[1]
χ-separation: Magnetic susceptibility source separation toward iron and myelin mapping in the brain.

Neuroimage. 2021-10-15

[2]
An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.

Nat Neurosci. 2021-5

[3]
Identifying multiple sclerosis subtypes using unsupervised machine learning and MRI data.

Nat Commun. 2021-4-6

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The traveling heads 2.0: Multicenter reproducibility of quantitative imaging methods at 7 Tesla.

Neuroimage. 2021-5-15

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Medium-term effects of SARS-CoV-2 infection on multiple vital organs, exercise capacity, cognition, quality of life and mental health, post-hospital discharge.

EClinicalMedicine. 2021-1-7

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Quantitative Susceptibility Mapping of Brain Iron and β-Amyloid in MRI and PET Relating to Cognitive Performance in Cognitively Normal Older Adults.

Radiology. 2021-2

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Versican: A Dynamic Regulator of the Extracellular Matrix.

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Neuroimage. 2020-12

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Neuroimage. 2021-1-1

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Genome-wide association study of MRI markers of cerebral small vessel disease in 42,310 participants.

Nat Commun. 2020-5-1

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