New Susceptibility Genes IDed for Restless Leg Syndrome adminJuly 28, 2023 Guy A. Rouleau, MD, PhD What are the clinical implications of your research? GAR: Although direct clinical implications are not the goal of such an association study, this study will provide impetus for further functional research that would lead to the identification of disease mechanisms, and therefore, drug targets and the development of new therapeutic interventions. What further research should be done? GAR: Most of the genetic variants predisposing to RLS remain to be identified. The genetic variants at the risk loci identified so far account for only a small proportion of the genetically determined susceptibility to RLS. Follow up studies should search for other types of variations, such as large genomic deletions or repetitive sequence elements at these loci. The Study: Akçimen F, Sarayloo F, Liao C, et al. Transcriptome-wide association study for restless legs syndrome identifies new susceptibility genes. Commun Biol. 2020 Jul 10;3(1):373. References 1. Picchietti DL, Van Den Eeden SK, Inoue Y, Berger K. Achievements, challenges, and future perspectives of epidemiologic research in restless legs syndrome (RLS). Sleep Med. 2017 Mar;31:3-9. 2. Jiménez-Jiménez FJ, Alonso-Navarro H, García-Martín E, Agúndez JA. Genetics of restless legs syndrome: an update. Sleep Med Rev. 2018 Jun;39:108-21. 3. Schormair B, Zhao C, Bell S, et al. Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis. Lancet Neurol. 2017 Nov;16(11):898-907. 4. Didriksen M, Nawaz MS, Dowsett J, et al. Large genome-wide association study identifies three novel risk variants for restless legs syndrome. Commun Biol. 2020 Nov 25;3(1):1-9. Illustration 93222450 © Nexusby | Dreamstime.com Sleep researchers interested in participating in a Q&A should email editor[at]sleepreviewmag.com with a link to their relevant study.
