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Genetic analysis of FGF20 variants in Chinese Han patients with essential tremor

机译:中国汉族患者FGF20变异遗传分析

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摘要

Essential tremor (ET) is one of the most frequent neurological disorders with elusive etiology, typically characterized by postural and kinetic tremors. Evidence reveals that genetic components are implicated in the development of ET and there are some overlaps between ET and Parkinson's disease in clinical features and etiology. Variants in the fibroblast growth factor 20 gene (FGF20) have been reported to be associated with the risk of Parkinson's disease. To evaluate the association between the FGF20 gene variants and ET susceptibility, we conducted genetic analysis of five FGF20 variants (rs1721100, rs1989754, rs10089600, rs12720208, and rs17550360) in 200 patients with ET and 426 ethnically-matched Chinese Han normal controls. Statistical analysis did not identify significant differences in genotypic or allelic frequencies of variants between ET patients and normal controls (all P > 0.05). No related haplotype was found to be related to the risk of ET. The findings indicate the FGF20 gene might not play a dominating role in the genetic predisposition to ET in Chinese Han population. (C) 2016 Elsevier Ireland Ltd. All rights reserved.
机译:基本震颤(ET)是具有难以捉摸的病因的最常见的神经系统障碍之一,通常是姿势和动力学震颤的特征。有证据表明,遗传组件在ET的发展和牵连中有临床特点和病因ET和帕金森氏症之间的一些重叠。据报道,成纤维细胞生长因子20基因(FGF20)中的变体与帕金森病的风险有关。为了评估FGF20基因变异性和ET易感性之间的关联,我们在200名ET和426患者中进行了五种FGF20变体(RS1721100,RS1989754,RS10089600,RS12720208和RS17550360)的遗传分析。统计分析未识别ET患者和正常对照之间的基因型或等位基因频率的显着差异(所有P> 0.05)。没有发现任何相关的单倍型与ET的风险有关。结果表明FGF20基因可能在中国汉族人群遗传易感中可能在遗传易感中发挥主导作用。 (c)2016 Elsevier Ireland Ltd.保留所有权利。

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