抑郁症跨基因组研究发现了 697 种与细胞类型和药物疗法相关的关联性

IF 45.5 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Cell Pub Date : 2025-01-14 DOI:10.1016/j.cell.2024.12.002
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引用次数: 0

摘要

在一项全基因组关联研究(GWAS)荟萃分析中,研究人员对来自29个国家的688,808名重度抑郁症(MD)患者和4,364,225名对照患者进行了研究,他们来自不同和混合的祖先,在635个基因座中发现了697个关联,其中293个是新的。利用精细定位和功能工具,我们发现308个高可信度的基因关联和突触后密度和受体聚类的富集。利用单细胞数据进行的神经细胞类型富集分析暗示了小鼠和人类单细胞分析中兴奋性、抑制性和中等棘神经元以及杏仁核神经元的参与。这些关联丰富了抗抑郁药物的目标,并提供了潜在的重新利用机会。使用欧洲或多祖先数据训练的多基因评分预测了所有祖先的MD状况,解释了欧洲人高达5.8%的MD倾向性差异。这些发现促进了我们对MD的整体理解,并揭示了可用于靶向和开发药物治疗的生物学靶点,以解决未满足的有效治疗需求。
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Trans-ancestry genome-wide study of depression identifies 697 associations implicating cell types and pharmacotherapies
In a genome-wide association study (GWAS) meta-analysis of 688,808 individuals with major depression (MD) and 4,364,225 controls from 29 countries across diverse and admixed ancestries, we identify 697 associations at 635 loci, 293 of which are novel. Using fine-mapping and functional tools, we find 308 high-confidence gene associations and enrichment of postsynaptic density and receptor clustering. A neural cell-type enrichment analysis utilizing single-cell data implicates excitatory, inhibitory, and medium spiny neurons and the involvement of amygdala neurons in both mouse and human single-cell analyses. The associations are enriched for antidepressant targets and provide potential repurposing opportunities. Polygenic scores trained using European or multi-ancestry data predicted MD status across all ancestries, explaining up to 5.8% of MD liability variance in Europeans. These findings advance our global understanding of MD and reveal biological targets that may be used to target and develop pharmacotherapies addressing the unmet need for effective treatment.
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来源期刊
Cell
Cell 生物-生化与分子生物学
CiteScore
110.00
自引率
0.80%
发文量
396
审稿时长
2 months
期刊介绍: Cells is an international, peer-reviewed, open access journal that focuses on cell biology, molecular biology, and biophysics. It is affiliated with several societies, including the Spanish Society for Biochemistry and Molecular Biology (SEBBM), Nordic Autophagy Society (NAS), Spanish Society of Hematology and Hemotherapy (SEHH), and Society for Regenerative Medicine (Russian Federation) (RPO). The journal publishes research findings of significant importance in various areas of experimental biology, such as cell biology, molecular biology, neuroscience, immunology, virology, microbiology, cancer, human genetics, systems biology, signaling, and disease mechanisms and therapeutics. The primary criterion for considering papers is whether the results contribute to significant conceptual advances or raise thought-provoking questions and hypotheses related to interesting and important biological inquiries. In addition to primary research articles presented in four formats, Cells also features review and opinion articles in its "leading edge" section, discussing recent research advancements and topics of interest to its wide readership.
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