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The role of structural variations in Alzheimer’s disease and other neurodegenerative diseases
Dozens of single nucleotide polymorphisms (SNPs) related to Alzheimer’s disease (AD) have been discovered by large scale genome-wide association studies (GWASs). However, only a small portion of the genetic component of AD can be explained by SNPs observed from GWAS. Structural variation (SV) can be...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9944073/ https://www.ncbi.nlm.nih.gov/pubmed/36846102 http://dx.doi.org/10.3389/fnagi.2022.1073905 |
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author | Wang, Hui Wang, Li-San Schellenberg, Gerard Lee, Wan-Ping |
author_facet | Wang, Hui Wang, Li-San Schellenberg, Gerard Lee, Wan-Ping |
author_sort | Wang, Hui |
collection | PubMed |
description | Dozens of single nucleotide polymorphisms (SNPs) related to Alzheimer’s disease (AD) have been discovered by large scale genome-wide association studies (GWASs). However, only a small portion of the genetic component of AD can be explained by SNPs observed from GWAS. Structural variation (SV) can be a major contributor to the missing heritability of AD; while SV in AD remains largely unexplored as the accurate detection of SVs from the widely used array-based and short-read technology are still far from perfect. Here, we briefly summarized the strengths and weaknesses of available SV detection methods. We reviewed the current landscape of SV analysis in AD and SVs that have been found associated with AD. Particularly, the importance of currently less explored SVs, including insertions, inversions, short tandem repeats, and transposable elements in neurodegenerative diseases were highlighted. |
format | Online Article Text |
id | pubmed-9944073 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-99440732023-02-23 The role of structural variations in Alzheimer’s disease and other neurodegenerative diseases Wang, Hui Wang, Li-San Schellenberg, Gerard Lee, Wan-Ping Front Aging Neurosci Aging Neuroscience Dozens of single nucleotide polymorphisms (SNPs) related to Alzheimer’s disease (AD) have been discovered by large scale genome-wide association studies (GWASs). However, only a small portion of the genetic component of AD can be explained by SNPs observed from GWAS. Structural variation (SV) can be a major contributor to the missing heritability of AD; while SV in AD remains largely unexplored as the accurate detection of SVs from the widely used array-based and short-read technology are still far from perfect. Here, we briefly summarized the strengths and weaknesses of available SV detection methods. We reviewed the current landscape of SV analysis in AD and SVs that have been found associated with AD. Particularly, the importance of currently less explored SVs, including insertions, inversions, short tandem repeats, and transposable elements in neurodegenerative diseases were highlighted. Frontiers Media S.A. 2023-02-08 /pmc/articles/PMC9944073/ /pubmed/36846102 http://dx.doi.org/10.3389/fnagi.2022.1073905 Text en Copyright © 2023 Wang, Wang, Schellenberg and Lee. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Aging Neuroscience Wang, Hui Wang, Li-San Schellenberg, Gerard Lee, Wan-Ping The role of structural variations in Alzheimer’s disease and other neurodegenerative diseases |
title | The role of structural variations in Alzheimer’s disease and other neurodegenerative diseases |
title_full | The role of structural variations in Alzheimer’s disease and other neurodegenerative diseases |
title_fullStr | The role of structural variations in Alzheimer’s disease and other neurodegenerative diseases |
title_full_unstemmed | The role of structural variations in Alzheimer’s disease and other neurodegenerative diseases |
title_short | The role of structural variations in Alzheimer’s disease and other neurodegenerative diseases |
title_sort | role of structural variations in alzheimer’s disease and other neurodegenerative diseases |
topic | Aging Neuroscience |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9944073/ https://www.ncbi.nlm.nih.gov/pubmed/36846102 http://dx.doi.org/10.3389/fnagi.2022.1073905 |
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