Genome wide Association Study of the Restless Legs Syndrome (RLS)

• Applicant: Professorin Dr. Juliane Winkelmann
• Subject Area: Molecular Biology and Physiology of Neurons and Glial Cells
• Term: from 2012 to 2016
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 218143125

The restless legs syndrome (RLS) is a complex genetic neurological disorder of which common and rare genetic variants together with non-genetic/environmental factors contribute to the phenotype. Within the scope of genome-wide association studies (GWAs) genetic risk variants associated with RLS have been identified. These are common SNPs („single nucleotide polymorphisms“) located in the genes MEIS1, MAP2K5/SKOR1, BTBD9, PTPRD, and TOX3.This study aims at the identification of further common genetic variants associated with RLS. Therefore, we will increase the number of RLS patients in the GWAs up to 6000 cases using genome-wide SNP array technology. These data will be analysed using genotypes of ethnically matched genome-wide data sets of the general population as the control dataset. These analyses will identify up to 20 further RLS loci. The genetic network of common variants associated with RLS will provide a comprehensive map of the genetic pathways involved, will contribute to narrow down the involved anatomical region and also increases the repertoires of therapeutical tagets.. Therefore, new insights into the (patho-) physiology of the disorder will be gained. Including some overlaps with comorbid phenotypes.

• DFG Programme: Research Grants