Validity and Prognostic Value of a Polygenic Risk Score for Parkinson's Disease.
Validity and Prognostic Value of a Polygenic Risk Score for Parkinson's Disease.
复制标题
帕金森病多基因风险评分的有效性和预后价值
DOI：
10.3390/genes12121859
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发表时间：
2021-11-23
期刊：
影响因子：
3.5
通讯作者：
Caliebe A
中科院分区：
文献类型：
--
作者：
Koch S;Laabs BH;Kasten M;Vollstedt EJ;Becktepe J;Brüggemann N;Franke A;Krämer UM;Kuhlenbäumer G;Lieb W;Mollenhauer B;Neis M;Trenkwalder C;Schäffer E;Usnich T;Wittig M;Klein C;König IR;Lohmann K;Krawczak M;Caliebe A
特发性帕金森病（PD）是由遗传和非遗传危险因素相互作用引起的复杂的多因素疾病。多基因风险评分（PRS）是一种将大量遗传变异对PD等疾病风险的影响以单一数量汇总的方法。然而，在独立的数据集中重新评估特定减贫战略的执行情况是将减贫战略确定为实现这一目标的有效工具的先决条件。我们在一个单独的遗传数据集中研究了先前提出的PD PRS，包括1914例PD病例和4464例对照，并能够复制其区分病例和对照的能力。我们还从理论上评估了PD-PRS的预后价值，即，其预测健康个体晚年PD发展的能力。事实证明，可以预期只有PD-PRS在这方面表现不佳。因此，我们的结论是，PD-PRS可以作为一个重要的研究工具，但有意义的PRS为基础的PD在个人水平的预后是不可行的。
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.
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影响因子：
14.9
作者：
Howe KL;Achuthan P;Allen J;Allen J;Alvarez-Jarreta J;Amode MR;Armean IM;Azov AG;Bennett R;Bhai J;Billis K;Boddu S;Charkhchi M;Cummins C;Da Rin Fioretto L;Davidson C;Dodiya K;El Houdaigui B;Fatima R;Gall A;Garcia Giron C;Grego T;Guijarro-Clarke C;Haggerty L;Hemrom A;Hourlier T;Izuogu OG;Juettemann T;Kaikala V;Kay M;Lavidas I;Le T;Lemos D;Gonzalez Martinez J;Marugán JC;Maurel T;McMahon AC;Mohanan S;Moore B;Muffato M;Oheh DN;Paraschas D;Parker A;Parton A;Prosovetskaia I;Sakthivel MP;Salam AIA;Schmitt BM;Schuilenburg H;Sheppard D;Steed E;Szpak M;Szuba M;Taylor K;Thormann A;Threadgold G;Walts B;Winterbottom A;Chakiachvili M;Chaubal A;De Silva N;Flint B;Frankish A;Hunt SE;IIsley GR;Langridge N;Loveland JE;Martin FJ;Mudge JM;Morales J;Perry E;Ruffier M;Tate J;Thybert D;Trevanion SJ;Cunningham F;Yates AD;Zerbino DR;Flicek P
通讯作者：
Flicek P
影响因子：
9.2
作者：
Chang CC;Chow CC;Tellier LC;Vattikuti S;Purcell SM;Lee JJ
通讯作者：
Lee JJ
影响因子：
7.7
作者：
Kasten, Meike;Hagenah, Johann;Klein, Christine
通讯作者：
Klein, Christine
影响因子：
1.9
作者：
Lieb, Wolfgang;Jacobs, Gunnar;Krawczak, Michael
通讯作者：
Krawczak, Michael
影响因子：
168.9
作者：
Kalia, Lorraine V.;Lang, Anthony E.
通讯作者：
Lang, Anthony E.