中国帕金森病患者 GIGYF2 基因变异的随访研究。
Follow-up study of variants of the GIGYF2 gene in Chinese patients with Parkinson’s disease.
机构信息
Department of Neurology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan 410008, China.
出版信息
J Clin Neurosci. 2011 Dec;18(12):1699-701. doi: 10.1016/j.jocn.2011.05.014.
The Grb10-interacting GYF protein-2 gene (GIGYF2) is a PARK11 gene that reportedly has a causal role in familial Parkinson’s disease (PD) among populations from Italy and France. However, no comprehensive study of the GIGYF2 gene has been conducted among PD patients from mainland China. In our previous study, the GIGYF2 gene was directly sequenced, and nine missense variants and 14 polymorphisms were identified. For these 14 polymorphisms, in the present study we performed a case–control analysis for 300 PD patients and 200 healthy controls from mainland China. The c.297T>C p.Ala99Ala polymorphism was associated with increased risk with respect to the pathogenesis of sporadic PD. In conclusion, within the Chinese population, the c.297T>C p.Ala99Ala polymorphism of the GIGYF2 gene may be associated with an increased risk of developing PD.
Grb10 相互作用的 GYF 蛋白-2 基因（GIGYF2）是 PARK11 基因，据报道在意大利和法国人群中的家族性帕金森病（PD）中具有因果作用。然而，在中国内地的 PD 患者中，尚未对 GIGYF2 基因进行全面研究。在我们之前的研究中，直接对 GIGYF2 基因进行了测序，鉴定出了 9 个错义变体和 14 个多态性。对于这 14 个多态性，在本研究中，我们对 300 名中国内地 PD 患者和 200 名健康对照进行了病例-对照分析。c.297T>C p.Ala99Ala 多态性与散发性 PD 的发病机制有关。总之，在中国人群中，GIGYF2 基因的 c.297T>C p.Ala99Ala 多态性可能与 PD 发病风险增加相关。
Zotero 插件