Genetic analysis of NR4A2 gene in a large population of Han Chinese patients with 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.