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Restless Legs syndrome (RLS) is a common sleep disorder for which the genetic contribution remains poorly explained. In 2007, the first large scale genome wide association study (GWAS) identified three genomic regions associated with RLS.  MEIS1 ,  BTBD9 and MAP2K5 / SKOR1  are the only known genes located within these loci and their association with RLS was subsequently confirmed in a number of follow up GWAS. Following this finding, our group reported the  MEIS1  risk haplotype to be associated with its decreased expression at the mRNA and protein levels. Here we report the effect of the risk variants of the three other genes strongly associated with RLS. While these variants had no effect on the mRNA levels of the genes harboring them, we find that the homeobox transcription factor  MEIS1  positively regulates the expression of the transcription co-repressor  SKOR1 . This regulation appears mediated through the binding of MEIS1 at two specific sites located in the  SKOR1  promoter region and is modified by an RLS associated SNP in the promoter region of the gene. Our findings directly link  MEIS1  and  SKOR1 , two significantly associated genes with RLS and also prioritize  SKOR1  over  MAP2K5  in the RLS associated intergenic region of  MAP2K5 / SKOR1  found by GWAS.

A direct interaction between two Restless Legs Syndrome predisposing genes: MEIS1 and SKOR1