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The Application of Genetic Risk Scores in Rheumatic Diseases: A Perspective

Lookup NU author(s): Najib NaamaneORCiD, Professor Heather Cordell, Dr Arthur PrattORCiD, Professor Rachel Knevel



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


© 2023 by the authors.Modest effect sizes have limited the clinical applicability of genetic associations with rheumatic diseases. Genetic risk scores (GRSs) have emerged as a promising solution to translate genetics into useful tools. In this review, we provide an overview of the recent literature on GRSs in rheumatic diseases. We describe six categories for which GRSs are used: (a) disease (outcome) prediction, (b) genetic commonalities between diseases, (c) disease differentiation, (d) interplay between genetics and environmental factors, (e) heritability and transferability, and (f) detecting causal relationships between traits. In our review of the literature, we identified current lacunas and opportunities for future work. First, the shortage of non-European genetic data restricts the application of many GRSs to European populations. Next, many GRSs are tested in settings enriched for cases that limit the transferability to real life. If intended for clinical application, GRSs are ideally tested in the relevant setting. Finally, there is much to elucidate regarding the co-occurrence of clinical traits to identify shared causal paths and elucidate relationships between the diseases. GRSs are useful instruments for this. Overall, the ever-continuing research on GRSs gives a hopeful outlook into the future of GRSs and indicates significant progress in their potential applications.

Publication metadata

Author(s): Vaskimo LM, Gomon G, Naamane N, Cordell HJ, Pratt A, Knevel R

Publication type: Article

Publication status: Published

Journal: Genes

Year: 2023

Volume: 14

Issue: 12

Online publication date: 01/12/2023

Acceptance date: 30/11/2023

Date deposited: 08/01/2024

ISSN (electronic): 2073-4425

Publisher: Multidisciplinary Digital Publishing Institute (MDPI)


DOI: 10.3390/genes14122167


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