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DOI 10.3390/genes12121859

Медицинская библиотека · Genes · 2021

Validity and Prognostic Value of a Polygenic Risk Score for Parkinson's Disease.

Koch Sebastian, Laabs Björn-Hergen, Kasten Meike, Vollstedt Eva-Juliane, Becktepe Jos, Brüggemann Norbert, Franke Andre, Krämer Ulrike M, Kuhlenbäumer Gregor, Lieb Wolfgang, Mollenhauer Brit, Neis Miriam, Trenkwalder Claudia, Schäffer Eva, Usnich Tatiana, Wittig Michael, Klein Christine, König Inke R, Lohmann Katja, Krawczak Michael, Caliebe Amke

СтатьяПоддержка исследования: вне правительства СШАПеревод пока не подготовлен

Аннотация

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.

Для цитирования: Koch Sebastian, Laabs Björn-Hergen, Kasten Meike, Vollstedt Eva-Juliane, Becktepe Jos, Brüggemann Norbert, Franke Andre, Krämer Ulrike M, Kuhlenbäumer Gregor, Lieb Wolfgang, Mollenhauer Brit, Neis Miriam, Trenkwalder Claudia, Schäffer Eva, Usnich Tatiana, Wittig Michael, Klein Christine, König Inke R, Lohmann Katja, Krawczak Michael, Caliebe Amke. Validity and Prognostic Value of a Polygenic Risk Score for Parkinson's Disease.. Genes. 2021. DOI: 10.3390/genes12121859.

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