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Keywords:

  • genetic analysis;
  • NR4A2 gene;
  • Parkinson's disease

Background

NR4A2 gene is a transcription factor crucial for differentiation and survival of midbrain dopamine (DA) neurons, and several variants have been eported to be associated with Parkinson's disease (PD) in the Caucasian population.

Methods

To determine whether there is any association of NR4A2 mutation or variation with PD in the Han Chinese population, we performed a genetic analysis of all the exons and exon–intron boundaries in 689 PD patients and 672 controls from mainland China using direct sequencing analysis.

Results

We identified four novel variants and two previously reported variants. Two novel variants (exon 2 c.-20 C>G and exon 3 c.711 C>A) were only found in PD. The others (exon 2 c.-35 A>G; exon 8 c.1615 G>A; intron 4 IVS4-16 G>T; and intron 6 IVS6 + 18 insG) were found in both PD and controls at different frequencies.

Conclusions

Collectively, our results suggest that NR4A2 may be a susceptibility gene for PD in the Chinese population.