Volume 135, Issue 3 pp. 373-376
Clinical Commentary

Genetic analysis of PITX3 variants in patients with essential tremor

H. Chen

H. Chen

Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China

Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China

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Z. Song

Z. Song

Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China

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L. Yuan

L. Yuan

Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China

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W. Xiong

W. Xiong

Cancer Research Institute, Xiangya School of Medicine, Central South University, Changsha, China

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Z. Yang

Z. Yang

Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China

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L. Gong

L. Gong

Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China

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H. Deng

Corresponding Author

H. Deng

Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China

Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China

H. Deng, Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, 138 Tongzipo Road, Changsha, Hunan 410013, China

Tel.: 86 731 88618372

Fax: 86 731 88618339

e-mail: [email protected]

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First published: 04 May 2016
Citations: 10

Abstract

Background

A clinical overlap between essential tremor (ET) and Parkinson's disease (PD) has prompted investigation whether these disorders share common genetic factors. The paired-like homeodomain transcription factor 3 gene (PITX3) has been shown to play an important role for the differentiation and survival of midbrain dopaminergic neurons in the substantia nigra pars compacta. The preferential degeneration of those dopaminergic neurons is the pathological hallmark in PD.

Aims of the study

The purpose of this study was to evaluate whether PITX3 variants are related to susceptibility of ET in Chinese Han population.

Methods

Genetic analysis of two variants rs3758549 and rs4919621 of the PITX3 gene was conducted in 200 Chinese Han patients with ET and 426 controls.

Results

We did not identify any statistically significant difference in either genotypic or allelic frequencies of variants between the ET patients and control cohort (all P > 0.05). Haplotype analysis of two variants in the PITX3 gene showed no potential association between the haplotypes and risk of ET (all P > 0.05).

Conclusions

Our data suggest that PITX3 variants rs3758549 and rs4919621 are not associated with ET in Chinese Han population.

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