中国汉族散发性帕金森病患者中TREM2变异体的基因分析。
Genetic analysis of TREM2 variants in Chinese Han patients with sporadic Parkinson's disease.
作者信息
Tan Ting, Song Zhi, Yuan Lamei, Xiong Wei, Deng Xiong, Ni Bin, Chen Yong, Deng Hao
机构信息
Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
出版信息
Neurosci Lett. 2016 Jan 26;612:189-192. doi: 10.1016/j.neulet.2015.12.029. Epub 2015 Dec 15.
Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's disease and is characterized by the degeneration of dopaminergic neurons in substantia nigra. Recently, rs75932628 (p.R47H) of the triggering receptor expressed on myeloid cells 2 gene (TREM2) was identified to be associated with PD in American, Spanish, Irish, and Polish population. To explore whether TREM2 variants are related to susceptibility of sporadic PD in Chinese Han population, we designed a case-control comparison study and studied two variants rs75932628 (p.R47H) and rs2234253 (p.T96K) of the TREM2 gene in 512 Chinese Han patients with sporadic PD and 512 age, gender and ethnicity matched normal controls from Mainland China. No variant for either rs75932628 or rs2234253 was found in both PD and control cohorts. Our data suggest that neither variant rs75932628 nor rs2234253 be a major susceptibility factor of sporadic PD in Chinese Han population from Mainland China.
帕金森病（PD）是仅次于阿尔茨海默病的第二常见神经退行性疾病，其特征是黑质中多巴胺能神经元的退化。最近，髓系细胞触发受体2基因（TREM2）的rs75932628（p.R47H）被确定与美国、西班牙、爱尔兰和波兰人群的帕金森病有关。为了探究TREM2变异体是否与中国汉族人群散发性帕金森病的易感性相关，我们设计了一项病例对照比较研究，并在512例中国汉族散发性帕金森病患者和512例来自中国大陆、年龄、性别和种族匹配的正常对照中研究了TREM2基因的两个变异体rs75932628（p.R47H）和rs2234253（p.T96K）。在帕金森病组和对照组中均未发现rs75932628或rs2234253的变异体。我们的数据表明，rs75932628和rs2234253变异体均不是中国大陆中国汉族人群散发性帕金森病的主要易感因素。
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