Helmholtz Zentrum Munich, National Research Center of Environment and Health, Institute of Human Genetics, Ingolstädter Landstrasse 1, Oberschleissheim, Munich 85764, Germany.
Sleep Med. 2012 Aug;13(7):848-51. doi: 10.1016/j.sleep.2012.03.012. Epub 2012 May 19.
Restless legs syndrome (RLS) is a frequent neurological disorder which is presented in idiopathic and secondary form. Idiopathic RLS is associated with common genetic variants in four chromosomal regions. Recently, multiple sclerosis (MS) was identified as a common cause for secondary RLS. The aim of our study was to evaluate the prevalence of RLS among Czech patients with MS and to further analyze the impact of known genetic risk factors for RLS in patients with MS.
Each patient underwent a semi-structured interview. A patient was considered to be affected by RLS if all four standard criteria had ever been met in their lifetime. The sample was genotyped using 12 single nucleotide polymorphisms within the four genomic regions, which were selected according to the results of previous genome-wide association studies.
A total of 765 subjects with MS were included in the study and the diagnosis of RLS was confirmed in 245 subjects (32.1%, 95%CI 28.7-35.4%). The genetic association study included 642 subjects; 203 MS patients with RLS were compared to 438 MS patients without RLS. No significant association with MEIS 1, BTBD9, and PTPRD gene variants was found despite sufficient statistical power for the first two loci. There was a trend for association with the MAP2K5/SCOR1 gene - the best model for the risk allele was the recessive one (p nominal=0.0029, p corrected for four loci and two models=0.023, odds ratio=1.60).
We confirmed that RLS prevalence was high in patients with multiple sclerosis, but this form did not share all genetic risk variants with idiopathic RLS.
不宁腿综合征（RLS）是一种常见的神经系统疾病，分为特发性和继发性。特发性 RLS 与四个染色体区域中的常见遗传变异有关。最近，多发性硬化症（MS）被确定为继发性 RLS 的常见原因。我们的研究目的是评估捷克 MS 患者中 RLS 的患病率，并进一步分析 MS 患者中已知的 RLS 遗传风险因素的影响。
每位患者都接受了半结构化访谈。如果患者一生中曾满足过所有四项标准，则认为其患有 RLS。使用根据先前全基因组关联研究结果选择的四个基因组区域内的 12 个单核苷酸多态性对样本进行基因分型。
共有 765 名 MS 患者纳入研究，245 名（32.1%，95%CI 28.7-35.4%）被确诊为 RLS。遗传关联研究包括 642 名患者；203 名 RLS 合并 MS 患者与 438 名无 RLS 合并 MS 患者进行比较。尽管对于前两个基因座具有足够的统计功效，但未发现与 MEIS1、BTBD9 和 PTPRD 基因变异的显著关联。与 MAP2K5/SCOR1 基因存在关联趋势-最佳风险等位基因模型为隐性模型（p 名义值=0.0029，校正四个基因座和两种模型后 p 值=0.023，优势比=1.60）。
我们证实多发性硬化症患者中 RLS 的患病率很高，但这种形式与特发性 RLS 并不共享所有遗传风险变异。
