LINGO1 Is Not Associated With Parkinson's Disease in German Patients
LINGO1 Is Not Associated With Parkinson's Disease in German Patients
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DOI：
10.1002/ajmg.b.31085
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发表时间：
2010-09-01
影响因子：
2.8
通讯作者：
Kuhlenbaeumer, Gregor
中科院分区：
文献类型：
--
作者：
Klebe, Stephan;Thier, Sandra;Kuhlenbaeumer, Gregor
特发性震颤（ET）和帕金森病（PD）是最常见的运动障碍，并显示临床，遗传和病理生理重叠。富含亮氨酸重复序列（LRR）和免疫球蛋白（IG）结构域的Nogo受体相互作用蛋白基因（LINGO 1）的单核苷酸多态性（SNP）与ET相关。LINGO1在PD患者的黑质（SN）中过表达，并且LINGO1的抑制在PD的啮齿动物模型中赋予神经保护作用。在这项研究中，我们测试的假设是否在LINGO1基因的SNPs与ET也与PD相关。来自基尔、吕贝克和图宾根的三个大型德国病例对照样本（总计：1，798例病例和1，482例对照）针对与ET相关的三个LINGO1 SNP进行基因分型。分别在三个样本、合并样本和早发性PD患者亚组中，使用基于等位基因和基因型的检验评估相关性（
Essential tremor (ET) and Parkinson's disease (PD) are the most common movement disorders and show clinical, genetic, and pathophysiological overlap. Single-nucleotide polymorphisms (SNPs) in the leucine-rich repeat (LRR) and immunoglobulin (Ig) domain-containing, Nogo receptor-interacting protein gene (LINGO1) are associated with ET. LINGO1 is overexpressed in the substantia nigra (SN) of PD patients and inhibition of LINGO1 confers neuroprotection in a rodent model of PD. In this study we test the hypothesis whether SNPs in the LINGO1 gene that are associated with ET are also associated with PD. Three large German case control samples from Kiel, Lubeck, and Tubingen (total: 1,798 cases and 1,482 controls) were genotyped for the three LINGO1 SNPs associated with ET. Association was assessed using allele- and genotype-based tests in each of the three samples separately, in the combined sample, and in subsets of patients with early-onset PD (