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痴呆症中的非编码变异：机制、见解与挑战。

Non-coding variation in dementias: mechanisms, insights, and challenges.

作者信息

Rogers Brianne B, Cochran J Nicholas

机构信息

HudsonAlpha Institute for Biotechnology, Huntsville, AL USA.

出版信息

NPJ Dement. 2025;1(1):9. doi: 10.1038/s44400-025-00012-4. Epub 2025 Jun 3.

DOI:10.1038/s44400-025-00012-4
PMID:40476256
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12133568/
Abstract

Dementia encompasses many neurodegenerative disorders. While some causal coding variants are known, most GWAS variants are in non-coding regions of the genome, making understanding functional impacts challenging. This review explores the role of non-coding variation in dementia, covering methods to identify enhancers and their target genes, prioritize GWAS variants, and validate the functional effects of variation, providing a comprehensive framework for investigating non-coding variation and its implications in dementia research.

摘要

痴呆症包括许多神经退行性疾病。虽然已知一些因果编码变异，但大多数全基因组关联研究（GWAS）变异位于基因组的非编码区域，这使得理解其功能影响具有挑战性。本综述探讨了非编码变异在痴呆症中的作用，涵盖了识别增强子及其靶基因、对GWAS变异进行优先级排序以及验证变异功能效应的方法，为研究非编码变异及其在痴呆症研究中的意义提供了一个全面的框架。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93fe/12133568/b81700d35415/44400_2025_12_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93fe/12133568/b81700d35415/44400_2025_12_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/93fe/12133568/b81700d35415/44400_2025_12_Fig1_HTML.jpg

相似文献

[1]
Non-coding variation in dementias: mechanisms, insights, and challenges.

NPJ Dement. 2025

[2]
Challenges and progress in interpretation of non-coding genetic variants associated with human disease.

Exp Biol Med (Maywood). 2017-7

[3]
Making sense of GWAS: using epigenomics and genome engineering to understand the functional relevance of SNPs in non-coding regions of the human genome.

Epigenetics Chromatin. 2015-12-30

[4]
Understanding the function of regulatory DNA interactions in the interpretation of non-coding GWAS variants.

Front Cell Dev Biol. 2022-8-19

[5]
Into the Wild: GWAS Exploration of Non-coding RNAs.

Front Cardiovasc Med. 2018-12-17

[6]
VariFunNet, an integrated multiscale modeling framework to study the effects of rare non-coding variants in Genome-Wide Association Studies: applied to Alzheimer's Disease.

Proceedings (IEEE Int Conf Bioinformatics Biomed). 2017-11

[7]
The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.

BMC Med Genomics. 2022-4-1

[8]
Pathways to neurodegeneration: mechanistic insights from GWAS in Alzheimer's disease, Parkinson's disease, and related disorders.

Am J Neurodegener Dis. 2013-9-18

[9]
A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure.

Hum Reprod Open. 2024-11-13

[10]
DNA-binding factor footprints and enhancer RNAs identify functional non-coding genetic variants.

Genome Biol. 2024-8-6

本文引用的文献

[1]
Evolutionary Innovations in Conserved Regulatory Elements Associate With Developmental Genes in Mammals.

Mol Biol Evol. 2024-10-4

[2]
Cross-disorder and disease-specific pathways in dementia revealed by single-cell genomics.

Cell. 2024-10-3

[3]
The enhancer RNA, AANCR, regulates APOE expression in astrocytes and microglia.

Nucleic Acids Res. 2024-9-23

[4]
Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia.

Am J Hum Genet. 2024-7-11

[5]
Disease-specific prioritization of non-coding GWAS variants based on chromatin accessibility.

HGG Adv. 2024-7-18

[6]
2024 Alzheimer's disease facts and figures.

Alzheimers Dement. 2024-5

[7]
Probabilistic association of differentially expressed genes with -regulatory elements.

Genome Res. 2024-5-15

[8]
An Emerging Role for Enhancer RNAs in Brain Disorders.

Neuromolecular Med. 2024-3-28

[9]
Neuronal MAPT expression is mediated by long-range interactions with cis-regulatory elements.

Am J Hum Genet. 2024-2-1

[10]
Conserved and divergent gene regulatory programs of the mammalian neocortex.

Nature. 2023-12

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