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首页> 外文期刊>European journal of neurology: the official journal of the European Federation of Neurological Societies >Association of candidate genetic variants with restless legs syndrome in end stage renal disease: A multicenter case-control study in Taiwan
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Association of candidate genetic variants with restless legs syndrome in end stage renal disease: A multicenter case-control study in Taiwan

机译：结束术后肾脏疾病患者临床遗传变异性与躁动腿综合征的协会：台湾多中心案例控制研究

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摘要

Background and purpose: Recent genome-wide association studies have shown associations between multiple genetic variants and primary restless legs syndrome (RLS). Their roles in end stage renal disease (ESRD) related secondary RLS are not clear and studies in Asian populations are scarce. The association between candidate genetic variants and uremic RLS was investigated in a large cohort of Taiwanese dialysis patients. Methods: Sixteen RLS-related genetic variants at six loci, including MEIS1, BTBD9, MAP2K5/SKOR1, PTPRD, TOX3/BC034767 and the intergenic region of chromosome 2p14, in a total of 993 ESRD patients (259 subjects with and 734 subjects without RLS) were genotyped using TaqMan? genotyping assays. Multivariate logistic regression analysis was used to test for associations between the genotypes and RLS in ESRD. Power calculations were completed using the CATs Genetic Power Calculator with settings of a multiplicative genetic model. Results: A modest association between the PTPRD variant rs4626664 and uremic RLS (odds ratio 1.52, 95% CI 1.03-2.23, P = 0.03) and a trend that TOX3/BC034767 variant rs3104767 may associate with the occurrence of RLS were observed in our dialysis population (odds ratio 1.74, 95% CI 0.97-3.11, P = 0.06). No associations between other genetic variants and risk and severity of RLS were observed in our ESRD cohort. Conclusions: The genetic variants of primary RLS candidate genes did not play a major role in our uremic RLS populations. The ethnic difference and heterogeneous etiologies underlying renal failure may partly explain the minor genetic contribution to uremic RLS in our populations. Further studies for other ethnicities will be of worth.
机译：背景和目的：最近的基因组 - 宽协会研究表明了多种遗传变异和初级不安腿综合征（RLS）之间的关联。他们在最终阶段肾病（ESRD）相关二级RL的作用不明确，亚洲人口的研究是稀缺的。在一大群台湾透析患者队列中调查了候选遗传变异和尿毒症RLS之间的关联。方法：六个基因座的六个遗传变异，包括Meis1，BTBD9，MAP2K5 / SKOR1，PTPRD，TOX3 / BC034767和染色体2P14的代际区域，总共993名ESRD患者（259名受试者，没有RLS的734个受试者）使用Taqman进行基因分型？基因分型测定。多变量逻辑回归分析用于测试ESRD中基因型和RLS之间的关联。使用CATS遗传功率计算器完成功率计算，具有乘法遗传模型的设置。结果：PTPRD变体RS46266664和尿糊性RLS之间的适度关联（差异1.52,95％CI 1.03-2.23，P = 0.03）和TOX3 / BC034767变体RS3104767的趋势可以在我们的透析中观察到RLS的发生相关联人口（赔率比1.74,95％CI 0.97-3.11，P = 0.06）。在我们的ESRD队列中没有观察到其他遗传变异性和RLS的风险和严重程度之间的关联。结论：原发性RLS候选基因的遗传变异在我们的尿性RLS群体中没有发挥重要作用。肾功能衰竭的种族差异和异质病因可能部分解释我们人群中对尿毒症RLS的轻微遗传贡献。对其他种族的进一步研究将是值得的。

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    LinC.-H.; ChenM.-L.; WuV.-C.; LiW.-Y.; SyH.-N.; WuS.-L.; ChangC.-C.; ChiuP.-F.; LiouH.-H.; LinC.-Y.; ChangH.-W.; LinS.-Y.; WuK.-D.; ChenY.-M.; WuR.-M.;

  • 作者单位

    Department of Neurology National Taiwan University Hospital College of Medicine National Taiwan;

    Institute of Zoology National Taiwan University Taipei Taiwan;

    Department of Internal Medicine National Taiwan University Hospital College of Medicine National;

    Department of Internal Medicine National Taiwan University Hospital Yun-Lin Branch Douliou Taiwan;

    Department of Neurology Changhua Christian Hospital Changhua Taiwan;

    Department of Neurology Changhua Christian Hospital Changhua Taiwan;

    Department of Internal Medicine Changhua Christian Hospital Changhua Taiwan;

    Department of Internal Medicine Changhua Christian Hospital Changhua Taiwan;

    Department of Internal Medicine Hsin Jen Hospital Taipei Taiwan;

    Department of Internal Medicine En Chu Kong Hospital Taipei Taiwan;

    Far Eastern Polyclinic Taipei Taiwan;

    Department of Internal Medicine National Taiwan University Hospital Bei-Hu Branch Taipei Taiwan;

    Department of Internal Medicine National Taiwan University Hospital College of Medicine National;

    Department of Internal Medicine National Taiwan University Hospital College of Medicine National;

    Department of Neurology National Taiwan University Hospital College of Medicine National Taiwan;

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  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 神经病学;
  • 关键词

    BTBD9; End stage renal disease; MAP2K5; MEIS1; PTPRD; Restless legs syndrome;

    机译：BTBD9;末期肾病;MAP2K5;MEIS1;PTPRD;不安的腿综合征;

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