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林戈 1 与德国患者的帕金森病无关。

LINGO1 is not associated with Parkinson's disease in German patients.

机构信息

Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel, Arnold-Heller Strasse 3, Kiel, Germany.

出版信息

Am J Med Genet B Neuropsychiatr Genet. 2010 Sep;153B(6):1173-8. doi: 10.1002/ajmg.b.31085.

Abstract

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, Lübeck, and Tübingen (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 (<50 years) and of patients with a positive family history of PD. Neither of the three samples alone nor the combined sample showed evidence for association between LINGO1 SNPs and PD. The allele-based test showed a trend toward nominal association for all three SNPs in the Kiel sample. The subsets with early-onset PD or a positive family history did also not reveal evidence for association. SNPs in the LINGO1 gene associated with ET could not be shown to be associated with PD in our study population, despite a postulated overlap between both diseases.

摘要

特发性震颤(ET)和帕金森病(PD)是最常见的运动障碍,具有临床、遗传和病理生理学重叠。富含亮氨酸重复(LRR)和免疫球蛋白(Ig)域的核苷酸多态性(SNPs)在富含亮氨酸重复(LRR)和免疫球蛋白(Ig)域的 Nogo 受体相互作用蛋白基因(LINGO1)中与 ET 相关。LINGO1 在帕金森病患者的黑质(SN)中过度表达,抑制 LINGO1 在 PD 啮齿动物模型中具有神经保护作用。在这项研究中,我们测试了假设,即与 ET 相关的 LINGO1 基因中的 SNPs 是否也与 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:1798 例病例和 1482 例对照)对与 ET 相关的三个 LINGO1 SNPs 进行了基因分型。使用等位基因和基因型测试在每个样本中单独评估关联,在合并样本中以及在早发性 PD(<50 岁)和 PD 阳性家族史患者的亚组中评估关联。单独的三个样本或合并样本均未显示 LINGO1 SNP 与 PD 之间存在关联的证据。基于等位基因的测试显示,Kiel 样本中的所有三个 SNP 均存在名义关联的趋势。具有早发性 PD 或阳性家族史的亚组也未显示出关联的证据。尽管假定两种疾病之间存在重叠,但我们的研究人群中未发现与 ET 相关的 LINGO1 基因中的 SNPs 与 PD 相关。

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