Validity and Prognostic Value of a Polygenic Risk Score for Parkinson's Disease.
Parkinson’s disease
genetic risk
polygenic risk score
prognostic value
replication
validation
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
23 11 2021
23 11 2021
Historique:
received:
31
10
2021
accepted:
21
11
2021
entrez:
24
12
2021
pubmed:
25
12
2021
medline:
22
2
2022
Statut:
epublish
Résumé
Idiopathic Parkinson's disease (PD) is a complex multifactorial disorder caused by the interplay of both genetic and non-genetic risk factors. Polygenic risk scores (PRSs) are one way to aggregate the effects of a large number of genetic variants upon the risk for a disease like PD in a single quantity. However, reassessment of the performance of a given PRS in independent data sets is a precondition for establishing the PRS as a valid tool to this end. We studied a previously proposed PRS for PD in a separate genetic data set, comprising 1914 PD cases and 4464 controls, and were able to replicate its ability to differentiate between cases and controls. We also assessed theoretically the prognostic value of the PD-PRS, i.e., its ability to predict the development of PD in later life for healthy individuals. As it turned out, the PD-PRS alone can be expected to perform poorly in this regard. Therefore, we conclude that the PD-PRS could serve as an important research tool, but that meaningful PRS-based prognosis of PD at an individual level is not feasible.
Identifiants
pubmed: 34946808
pii: genes12121859
doi: 10.3390/genes12121859
pmc: PMC8700849
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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