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Large genome-wide association study identifies three novel risk variants for restless legs syndrome
Didriksen, M., Nawaz, M. S., Dowsett, J., Bell, S., Erikstrup, C., Pedersen, O. B., Sørensen, E., Jennum, P. J., Burgdorf, K. S., Burchell, B., Butterworth, A. S., Soranzo, N., Rye, D. B., Trotti, L. M., Saini, P., Stefansdottir, L., Magnusson, S. H., Thorleifsson, G., Sigmundsson, T., ... Stefansson, K. (2020). Large genome-wide association study identifies three novel risk variants for restless legs syndrome. Communications Biology, 3(1), 703. Article 703. https://doi.org/10.1038/s42003-020-01430-1
Restless legs syndrome (RLS) is a common neurological sensorimotor disorder often described as an unpleasant sensation associated with an urge to move the legs. Here we report findings from a meta-analysis of genome-wide association studies of RLS including 480,982 Caucasians (cases=10,257) and a follow up sample of 24,977 (cases=6,651). We confirm 19 of the 20 previously reported RLS sequence variants at 19 loci and report three novel RLS associations; rs112716420-G (OR=1.25, P=1.5x10(-18)), rs10068599-T (OR=1.09, P=6.9x10(-10)) and rs10769894-A (OR=0.90, P=9.4x10(-14)). At four of the 22 RLS loci, cis-eQTL analysis indicates a causal impact on gene expression. Through polygenic risk score for RLS we extended prior epidemiological findings implicating obesity, smoking and high alcohol intake as risk factors for RLS. To improve our understanding, with the purpose of seeking better treatments, more genetics studies yielding deeper insights into the disease biology are needed. Didriksen, Nawaz, et al. identify three novel genetic risk variants for restless legs syndrome and confirm 19 out of 20 previously reported variants through a genome-wide association meta-analysis including nearly half a million individuals. Using expression QTL analysis, they also find that a subset of these loci may have a causal effect on nearby gene expression.
