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Schormair, B.

Genetics of restless legs syndrome: Insights from genome-wide association studies.

Sleep Med. Clin. 20, 193-202 (2025)

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Open Access Green as soon as Postprint is submitted to ZB.

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Genome-wide association studies (GWAS) of common and low-frequency variants have discovered 164 genetic risk loci for restless legs syndrome (RLS) in adult populations of European ancestry. Sex-specific GWAS meta-analyses revealed largely overlapping genetic risk profiles for women and men and are in line with a nongenetic risk factor driving the higher prevalence seen in women. Genetic investigations of pediatric RLS are limited, but the likely inclusion of early-onset cases in GWAS of adult populations and the similar phenotypic presentation of both forms suggest that genetic risk variants identified in adult populations transfer to pediatric RLS.

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