Systematic genetic analysis of the PITX3 gene in patients with Parkinson disease
Yi Guo1, Wei-Dong Le, Joseph Jankovic
1Center for Experimental Medicine and Department of Neurology, the Third Xiangya Hospital, and Department of Physiology, Xiangya Medical School, Central South University, Changsha, China.
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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