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


ABSTRACT: 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 positi

SUBMITTER: Catoire H 

PROVIDER: S-EPMC6093889 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature