Genetic analysis of NR4A2 gene in a large population of Han Chinese patients with Parkinson's disease
Genetic analysis of NR4A2 gene in a large population of Han Chinese patients with Parkinson's disease
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DOI：
10.1111/j.1468-1331.2012.03824.x
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发表时间：
2013-03-01
影响因子：
5.1
通讯作者：
Le, W.
中科院分区：
文献类型：
--
作者：
Liu, H.;Tao, Q.;Le, W.
背景资料：NR 4A 2基因是一个对中脑多巴胺（DA）神经元的分化和存活至关重要的转录因子，在高加索人群中有几种变体被报道与帕金森病（PD）相关。为了确定中国汉族人群中NR 4A 2突变或变异与PD是否存在任何关联，我们对来自中国大陆的689名PD患者和672名对照者的所有外显子和外显子-内含子边界进行了直接测序分析。结果：我们鉴定了四个新的变异体和两个先前报道的变异体。两个新的变体（外显子2c.- 20 C>G和外显子3c。711 C>A）仅见于PD。其他的（exon 2c.- 35 A>G;外显子8 c. 1615 G>A;结论：NR 4A 2可能是中国人帕金森病的易感基因。
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.