Systematic genetic analysis of the PITX3 gene in patients with Parkinson disease
Identifieur interne : 000972 ( Istex/Curation ); précédent : 000971; suivant : 000973Systematic genetic analysis of the PITX3 gene in patients with Parkinson disease
Auteurs : Yi Guo [République populaire de Chine] ; Wei Le [États-Unis] ; Joseph Jankovic [États-Unis] ; Hua Yang [République populaire de Chine] ; Hong Xu [République populaire de Chine] ; Wen Xie [États-Unis] ; Zhi Song [République populaire de Chine] ; Hao Deng [République populaire de Chine, États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-08-01.
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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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DOI: 10.1002/mds.23693
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<front><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. © 2011 Movement Disorder Society</div>
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