α-突触核蛋白基因（SNCA）而非微管相关蛋白tau基因（MAPT）影响中国人和澳大利亚人帕金森病的发病年龄。
SNCA Gene, but Not MAPT, Influences Onset Age of Parkinson's Disease in Chinese and Australians.
作者信息
Huang Yue, Wang Gang, Rowe Dominic, Wang Ying, Kwok John B J, Xiao Qin, Mastaglia Frank, Liu Jun, Chen Sheng-Di, Halliday Glenda
机构信息
Neuroscience Research Australia and The University of New South Wales, Sydney, NSW 2031, Australia.
Department of Neurology and Institute of Neurology, Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200025, China.
出版信息
Biomed Res Int. 2015;2015:135674. doi: 10.1155/2015/135674. Epub 2015 Apr 15.
BACKGROUND
α-Synuclein (SNCA) and microtubule-associated protein tau (MAPT) are the two major genes independently, but not jointly, associated with susceptibility for Parkinson's disease (PD). The SNCA gene has recently been identified as a major modifier of age of PD onset. Whether MAPT gene synergistically influences age of onset of PD is unknown. Objective. To investigate independent and joint effects of MAPT and SNCA on PD onset age.
METHODS
412 patients with PD were recruited from the Australian PD Research Network (123) and the Neurology Department, Ruijin Hospital Affiliated to Shanghai Jiaotong University, China (289). MAPT (rs17650901) tagging H1/H2 haplotype and SNCA (Rep1) were genotyped in the Australian cohort, and MAPT (rs242557, rs3744456) and SNCA (rs11931074, rs894278) were genotyped in the Chinese cohort. SPSS regression analysis was used to test genetic effects on age at onset of PD in each cohort.
RESULTS
SNCA polymorphisms associated with the onset age of PD in both populations. MAPT polymorphisms did not enhance such association in either entire cohort.
CONCLUSION
This study suggests that, in both ethnic groups, SNCA gene variants influence the age at onset of PD and α-synuclein plays a key role in the disease course of PD.
背景
α-突触核蛋白（SNCA）和微管相关蛋白tau（MAPT）是两个独立而非共同与帕金森病（PD）易感性相关的主要基因。最近，SNCA基因被确定为PD发病年龄的主要调节因子。MAPT基因是否协同影响PD的发病年龄尚不清楚。目的：研究MAPT和SNCA对PD发病年龄的独立及联合作用。
方法
从澳大利亚PD研究网络（123例）和中国上海交通大学附属瑞金医院神经内科（289例）招募412例PD患者。在澳大利亚队列中对MAPT（rs17650901）标签H1/H2单倍型和SNCA（Rep1）进行基因分型，在中国队列中对MAPT（rs242557，rs3744456）和SNCA（rs11931074，rs894278）进行基因分型。采用SPSS回归分析检验每个队列中基因对PD发病年龄的影响。
结果
SNCA多态性与两个群体中PD的发病年龄相关。MAPT多态性在两个队列中均未增强这种关联。
结论
本研究表明，在两个种族群体中，SNCA基因变异均影响PD的发病年龄，且α-突触核蛋白在PD病程中起关键作用。
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