Genetics of Restless Legs Syndrome

The genetically complex restless legs syndrome (RLS) was tested for associations with genes using rare variant ExomeChip genotypes of 9,192 cases/controls. Candidate genes were sequenced together with candidate genes from a meta-GWAS using MIPseq in 1,456 cases/controls. A list of potential RLS genes was obtained. Furthermore, 843 individuals from 79 RLS families were genotyped/imputed for RLS risk SNPs. They were associated with RLS in 15 families and explained 17% to 100% of the phenotypic variance.