Genetic analysis of NR4A2 gene in a large population of Han Chinese patients with Parkinson's disease


Correspondence: W. Le, Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China (tel.: +86 21 6437 0045 61 1209; fax: +86 5466 9084; e-mail:



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.