Translational Research on Polygenic Risk Scores in Common Neurodegenerative Diseases - A Scoping Review Protocol

• Published in: Acta medica academica 2025-01
• Main Authors: Čižek Sajko, Mojca, Suklan, Jana, Osmanović, Džanan, Peterlin, Borut
• Format: Article
• Language: English
• ISSN: 1840-1848; 1840-2879
• DOI: 10.5644/ama2006-124.463

Objective. The purpose of this protocol is to clearly describe the process for the scoping review we plan to conduct on the topicof polygenic risk scores (PRS) in common neurodegenerative diseases. We will present the review's objective, the strategy forevidence search, the data extraction and analysis procedure, and how the results will be presented. Methods. The inclusion criteria for the planned scoping review will focus on evidence sources that involve PRS applied to neurogenerative diseases such as Multiple sclerosis, Parkinson’s disease, Alzheimer’s disease, and Amyotrophic lateral sclerosis in any phase of translational research, from early development to clinical implementation. This includes its use in risk prediction, early diagnosis, prognosis, and treatment decision-making. The research questions were created based on the population, context, and concept framework. We will consider both peer-reviewed papers and grey literature published in English or German for inclusion. Two independent reviewers will search for information. Conclusion. The findings from the scoping review will be presented descriptively and summarized according to the research questions to illustrate the current status of translational research on PRS in commonneurodegenerative diseases.