Movement Disorders (revue)

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Systematic Genetic Analysis of the PITX3 Gene in Patients with Parkinson Disease

Identifieur interne : 001864 ( Main/Exploration ); précédent : 001863; suivant : 001865

Systematic Genetic Analysis of the PITX3 Gene in Patients with Parkinson Disease

Auteurs : YI GUO [République populaire de Chine] ; Wei-Dong Le [États-Unis] ; Joseph Jankovic [États-Unis] ; Hua-Rong Yang [République populaire de Chine] ; Hong-Bo Xu [République populaire de Chine] ; Wen-Jie Xie [États-Unis] ; ZHI SONG [République populaire de Chine] ; HAO DENG [République populaire de Chine, États-Unis]

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RBID : Pascal:11-0380309

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English descriptors

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.


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Le document en format XML

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<term>Maladie de Parkinson</term>
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<div type="abstract" xml:lang="en">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.</div>
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