Rogers Brianne B, Cochran J Nicholas
HudsonAlpha Institute for Biotechnology, Huntsville, AL USA.
NPJ Dement. 2025;1(1):9. doi: 10.1038/s44400-025-00012-4. Epub 2025 Jun 3.
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.
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。
