Systematic genetic analysis of the PITX3 gene in patients with Parkinson disease§

Authors

  • Yi Guo MS,

    1. Center for Experimental Medicine and Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China
    2. Department of Physiology, Xiangya Medical School, Central South University, Changsha, China
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    • Yi Guo and Wei-Dong Le contributed equally to this article.

  • Wei-Dong Le MD, PhD,

    1. Department of Neurology, Baylor College of Medicine, Houston, Texas, USA
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    • Yi Guo and Wei-Dong Le contributed equally to this article.

  • Joseph Jankovic MD,

    1. Department of Neurology, Baylor College of Medicine, Houston, Texas, USA
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  • Hua-Rong Yang MS,

    1. Center for Experimental Medicine and Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China
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  • Hong-Bo Xu MS,

    1. Center for Experimental Medicine and Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China
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  • Wen-Jie Xie MD,

    1. Department of Neurology, Baylor College of Medicine, Houston, Texas, USA
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  • Zhi Song MD, PhD,

    1. Center for Experimental Medicine and Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China
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  • Hao Deng MD, PhD

    Corresponding author
    1. Center for Experimental Medicine and Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China
    2. Department of Neurology, Baylor College of Medicine, Houston, Texas, USA
    • Professor of Center for Experimental Medicine and Professor of Neurology, Vice Director of Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, 138 Tongzipo Road, Changsha, Hunan 410013, China
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  • Relevant conflicts of interest/financial disclosures: Nothing to report.

  • This work was supported by Central South University, Changsha, China, and Baylor College of Medicine, Houston, Texas.

  • §

    Full financial disclosures and author roles may be found in the online version of this article.

Abstract

Background:

Paired-like homodomain transcription factor 3 has been found to be important for the differentiation and survival of midbrain dopaminergic neurons.

Methods:

To determine whether genetic variation in the coding region of the paired-like homodomain transcription factor 3 gene plays a role in Parkinson's disease, genetic analysis was performed in 112 patients with Parkinson's disease.

Results:

We did not identify any mutations except rs2281983, but when we extended the analysis of rs2281983 and 2 intron variants (rs4919621 and rs3758549) in 336 patients with Parkinson's disease and 244 controls, we found that rs2281983 and rs4919621 appeared to confer susceptibility to Parkinson's disease, especially in early-onset Parkinson's disease and familial Parkinson's disease. © 2011 Movement Disorder Society

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