解开复杂特征的多组学层:作为模型的乳糜泻。

4区 生物学 Q2 Biochemistry, Genetics and Molecular Biology
Advances in Genetics Pub Date : 2025-01-01 Epub Date: 2025-08-08 DOI:10.1016/bs.adgen.2025.07.001
Juliana Xavier de Miranda Cerqueira
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引用次数: 0

摘要

在多组学技术和先进计算工具的整合推动下,后基因组时代迎来了生物医学研究的变革。虽然全基因组关联研究(GWAS)已经确定了数千种与复杂性状和疾病相关的变异,但这些变异中的大多数位于非编码区,它们的功能作用仍然难以捉摸。本章探讨精细制图、功能基因组学和系统生物学如何融合以弥合这一差距,从统计关联转移到机制见解。以乳糜泻为模型,我们阐述了基因组学、转录组学、表观基因组学和蛋白质组学数据如何协调一致,以识别因果变异,优先考虑候选基因,并绘制驱动疾病发病机制的调控网络。我们强调精细定位在精炼GWAS信号中的作用,以及整合染色质可及性、QTL共定位和单细胞组学在特定细胞环境中遗传风险背景的重要性。本章还讨论了多基因风险评分的前景,代谢组学在捕获功能表型中的作用,以及单细胞和空间技术在揭示疾病异质性方面的出现。尽管取得了这些进展,但挑战依然存在,包括数据异质性、计算复杂性以及基因组研究中非欧洲人群的代表性不足。解决这些问题对于确保精准医疗的公平性和临床效用至关重要。最后,本章强调了转化基因组学的变革潜力。通过将遗传变异与分子功能和临床结果联系起来,多组学方法为更具预测性、预防性和个性化的医疗保健铺平了道路——特别是在自身免疫性疾病和其他复杂疾病的背景下。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Disentangling the multi-omics layers of complex traits: Celiac disease as a model.

The post-genomic era has ushered in a transformative shift in biomedical research, driven by the integration of multi-omics technologies and advanced computational tools. While genome-wide association studies (GWAS) have identified thousands of variants linked to complex traits and diseases, the majority of these lie in non-coding regions, where their functional roles remain elusive. This chapter explores how fine-mapping, functional genomics, and systems biology are converging to bridge this gap, moving from statistical associations to mechanistic insights. Using celiac disease as a model, we illustrate how genomic, transcriptomic, epigenomic, and proteomic data can be harmonized to identify causal variants, prioritize candidate genes, and map regulatory networks that drive disease pathogenesis. We highlight the power of fine-mapping in refining GWAS signals and the importance of integrating chromatin accessibility, QTL colocalization, and single-cell omics to contextualize genetic risk within specific cellular environments. The chapter also discusses the promise of polygenic risk scores, the role of metabolomics in capturing functional phenotypes, and the emergence of single-cell and spatial technologies in revealing disease heterogeneity. Despite these advances, challenges remain-including data heterogeneity, computational complexity, and the underrepresentation of non-European populations in genomic studies. Addressing these issues will be critical for ensuring the equity and clinical utility of precision medicine. Ultimately, this chapter underscores the transformative potential of translational genomics. By connecting genetic variation to molecular function and clinical outcome, multi-omics approaches are paving the way for more predictive, preventive, and personalized healthcare-particularly in the context of autoimmune and other complex diseases.

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来源期刊
Advances in Genetics
Advances in Genetics 生物-遗传学
CiteScore
5.70
自引率
0.00%
发文量
1
审稿时长
1 months
期刊介绍: Advances in Genetics presents an eclectic mix of articles of use to all human and molecular geneticists. They are written and edited by recognized leaders in the field and make this an essential series of books for anyone in the genetics field.
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