These two authors contributed equally to this paper.
Genetic analysis of NR4A2 gene in a large population of Han Chinese patients with Parkinson's disease
Article first published online: 25 JUL 2012
© 2012 The Author(s) European Journal of Neurology © 2012 EFNS
European Journal of Neurology
Volume 20, Issue 3, pages 584–587, March 2013
How to Cite
Liu, H., Tao, Q., Deng, H., Ming, M., Ding, Y., Xu, P., Chen, S., Song, Z. and Le, W. (2013), Genetic analysis of NR4A2 gene in a large population of Han Chinese patients with Parkinson's disease. European Journal of Neurology, 20: 584–587. doi: 10.1111/j.1468-1331.2012.03824.x
- Issue published online: 14 FEB 2013
- Article first published online: 25 JUL 2012
- Manuscript Accepted: 13 JUN 2012
- Manuscript Received: 27 FEB 2012
- China National Nature Science Foundation. Grant Numbers: 30970925, 30730096
- National Basic Research Program. Grant Numbers: 2007CB947904, 2010CB945200
- genetic analysis;
- NR4A2 gene;
- Parkinson's disease
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.
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.
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.
Collectively, our results suggest that NR4A2 may be a susceptibility gene for PD in the Chinese population.