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

不宁腿综合征(RLS)是一种复杂的遗传性神经系统疾病，其常见和罕见的遗传变异与非遗传/环境因素共同作用于表型。在全基因组关联研究的范围内，已经确定了与RLS相关的遗传风险变异。这些是位于Meis1、MAP2K5/SKOR1、BTBD9、PTPRD和TOX3基因上的常见SNPs(单核苷酸多态)。本研究旨在进一步鉴定与RLS相关的常见遗传变异。因此，我们将使用全基因组SNP阵列技术将GWA中的RLS患者数量增加到6000例。这些数据将使用种族匹配的普通人群全基因组数据集的基因类型作为对照数据集进行分析。这些分析将进一步识别多达20个RLS基因座。与RLS相关的常见变异的遗传网络将提供所涉及的遗传路径的全面图谱，将有助于缩小涉及的解剖区域，并增加治疗标记的曲目。因此，对这种疾病的(病理)生理学将获得新的见解。包括一些与共病表型重叠的基因。

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.