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常见和罕见变异关联分析在肌萎缩侧索硬化症中确定了 15 个具有不同遗传结构和神经元特异性生物学的风险位点。

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.

机构信息

Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.

Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands.

出版信息

Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6.


DOI:10.1038/s41588-021-00973-1
PMID:34873335
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8648564/
Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons.

摘要

肌萎缩侧索硬化症(ALS)是一种致命的神经退行性疾病,终生发病风险为 1/350,目前尚无针对该疾病的治疗方法。我们进行了一项跨种族全基因组关联研究(GWAS),纳入了 29612 名 ALS 患者和 122656 名对照者,确定了 15 个风险位点。当结合 8953 名全基因组测序个体(6538 名患者,2415 名对照者)和一个大型皮质衍生表达数量性状基因座(eQTL)数据集(MetaBrain)进行分析时,揭示了特定于基因座的遗传结构,我们通过稀有变异、短串联重复或调控作用来优先考虑基因。ALS 相关风险位点与神经退行性疾病谱中的多个特征共享,但在脑区和细胞类型之间具有不同的富集模式。从文献中获得的环境和生活方式风险因素的孟德尔随机化分析表明,高胆固醇水平起着因果作用。所有 ALS 相关信号的组合揭示了囊泡介导的运输和自噬的紊乱在其中的作用,并为谷氨酸能神经元中细胞自主性疾病的发生提供了证据。

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[1]
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[2]
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引用本文的文献

[1]
Multiancestry brain pQTL fine-mapping and integration with genome-wide association studies of 21 neurologic and psychiatric conditions.

Nat Genet. 2025-9-8

[2]
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[3]
A plasma proteomics-based candidate biomarker panel predictive of amyotrophic lateral sclerosis.

Nat Med. 2025-8-19

[4]
Two-step Mendelian randomization reveals a lipid-driven protective effect of type 2 diabetes on ALS.

Neurol Sci. 2025-8-18

[5]
Identifying Therapeutic Targets for Amyotrophic Lateral Sclerosis Through Modeling of Multi-Omics Data.

Int J Mol Sci. 2025-7-23

[6]
Genetically Predict Diet-derived Antioxidants and Risk of Neurodegenerative Diseases Among Individuals of European Descent: A Mendelian Randomization Study.

Brain Behav. 2025-8

[7]
Machine learning-based proteomics profiling of ALS identifies downregulation of RPS29 that maintains protein homeostasis and STMN2 level.

Commun Biol. 2025-8-7

[8]
Uncovering the multivariate genetic architecture of frailty with genomic structural equation modeling.

Nat Genet. 2025-8-4

[9]
Human brain vascular multi-omics elucidates disease-risk associations.

Neuron. 2025-7-23

[10]
Causal associations and shared genetic etiology between neurodegenerative diseases and constipation.

J Alzheimers Dis Rep. 2025-7-23

本文引用的文献

[1]
Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases.

Nat Genet. 2023-3

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Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression.

Nat Genet. 2021-9

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