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Polygenic Risk Scores Contribute to Personalized Medicine of Parkinson’s Disease
Parkinson’s disease (PD) is the second most common neurodegenerative disorder characterized by the loss of dopaminergic neurons. The vast majority of PD patients develop the disease sporadically and it is assumed that the cause lies in polygenic and environmental components. The overall polygenic ri...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8539098/ https://www.ncbi.nlm.nih.gov/pubmed/34683174 http://dx.doi.org/10.3390/jpm11101030 |
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author | Dehestani, Mohammad Liu, Hui Gasser, Thomas |
author_facet | Dehestani, Mohammad Liu, Hui Gasser, Thomas |
author_sort | Dehestani, Mohammad |
collection | PubMed |
description | Parkinson’s disease (PD) is the second most common neurodegenerative disorder characterized by the loss of dopaminergic neurons. The vast majority of PD patients develop the disease sporadically and it is assumed that the cause lies in polygenic and environmental components. The overall polygenic risk is the result of a large number of common low-risk variants discovered by large genome-wide association studies (GWAS). Polygenic risk scores (PRS), generated by compiling genome-wide significant variants, are a useful prognostic tool that quantifies the cumulative effect of genetic risk in a patient and in this way helps to identify high-risk patients. Although there are limitations to the construction and application of PRS, such as considerations of limited genetic underpinning of diseases explained by SNPs and generalizability of PRS to other populations, this personalized risk prediction could make a promising contribution to stratified medicine and tailored therapeutic interventions in the future. |
format | Online Article Text |
id | pubmed-8539098 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-85390982021-10-24 Polygenic Risk Scores Contribute to Personalized Medicine of Parkinson’s Disease Dehestani, Mohammad Liu, Hui Gasser, Thomas J Pers Med Review Parkinson’s disease (PD) is the second most common neurodegenerative disorder characterized by the loss of dopaminergic neurons. The vast majority of PD patients develop the disease sporadically and it is assumed that the cause lies in polygenic and environmental components. The overall polygenic risk is the result of a large number of common low-risk variants discovered by large genome-wide association studies (GWAS). Polygenic risk scores (PRS), generated by compiling genome-wide significant variants, are a useful prognostic tool that quantifies the cumulative effect of genetic risk in a patient and in this way helps to identify high-risk patients. Although there are limitations to the construction and application of PRS, such as considerations of limited genetic underpinning of diseases explained by SNPs and generalizability of PRS to other populations, this personalized risk prediction could make a promising contribution to stratified medicine and tailored therapeutic interventions in the future. MDPI 2021-10-15 /pmc/articles/PMC8539098/ /pubmed/34683174 http://dx.doi.org/10.3390/jpm11101030 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Dehestani, Mohammad Liu, Hui Gasser, Thomas Polygenic Risk Scores Contribute to Personalized Medicine of Parkinson’s Disease |
title | Polygenic Risk Scores Contribute to Personalized Medicine of Parkinson’s Disease |
title_full | Polygenic Risk Scores Contribute to Personalized Medicine of Parkinson’s Disease |
title_fullStr | Polygenic Risk Scores Contribute to Personalized Medicine of Parkinson’s Disease |
title_full_unstemmed | Polygenic Risk Scores Contribute to Personalized Medicine of Parkinson’s Disease |
title_short | Polygenic Risk Scores Contribute to Personalized Medicine of Parkinson’s Disease |
title_sort | polygenic risk scores contribute to personalized medicine of parkinson’s disease |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8539098/ https://www.ncbi.nlm.nih.gov/pubmed/34683174 http://dx.doi.org/10.3390/jpm11101030 |
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