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

Yi Guo; Wei Dong Le; Joseph Jankovic; Hua Rong Yang; Hong Bo Xu; Wen Jie Xie; Zhi Song; Hao Deng

doi:10.1002/mds.23693

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

Yi Guo, Wei Dong Le, Joseph Jankovic, Hua Rong Yang, Hong Bo Xu, Wen Jie Xie, Zhi Song, Hao Deng

Houston Methodist

Research output: Contribution to journal › Article › peer-review

22 Scopus citations

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.

Original language	English (US)
Pages (from-to)	1729-1732
Number of pages	4
Journal	Movement Disorders
Volume	26
Issue number	9
DOIs	https://doi.org/10.1002/mds.23693
State	Published - Aug 1 2011

Keywords

Paired-like homodomain transcription factor 3
Parkinson disease
Susceptibility
Transcription factor

ASJC Scopus subject areas

Clinical Neurology
Neurology

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10.1002/mds.23693

Cite this

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title = "Systematic genetic analysis of the PITX3 gene in patients with Parkinson disease",

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.",

keywords = "Paired-like homodomain transcription factor 3, Parkinson disease, Susceptibility, Transcription factor",

author = "Yi Guo and Le, {Wei Dong} and Joseph Jankovic and Yang, {Hua Rong} and Xu, {Hong Bo} and Xie, {Wen Jie} and Zhi Song and Hao Deng",

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T1 - Systematic genetic analysis of the PITX3 gene in patients with Parkinson disease

AU - Guo, Yi

AU - Le, Wei Dong

AU - Jankovic, Joseph

AU - Yang, Hua Rong

AU - Xu, Hong Bo

AU - Xie, Wen Jie

AU - Song, Zhi

AU - Deng, Hao

PY - 2011/8/1

Y1 - 2011/8/1

N2 - 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.

AB - 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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KW - Susceptibility

KW - Transcription factor

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

Abstract

Keywords

ASJC Scopus subject areas

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