Chen Han, Yuan Lamei, Song Zhi, Deng Xiong, Yang Zhijian, Gong Lina, Zi Xiaohong, Deng Hao
1 Department of Neurology, The Third Xiangya Hospital, Central South University , Changsha, China .
2 Center for Experimental Medicine, The Third Xiangya Hospital, Central South University , Changsha, China .
Genet Test Mol Biomarkers. 2018 Jun;22(6):398-402. doi: 10.1089/gtmb.2017.0277. Epub 2018 May 29.
Essential tremor (ET) is one of the most common adult-onset movement disorders. ET and Parkinson's disease (PD) overlap clinically and pathologically, which prompted this investigation into the association of PD risk variants in ET patients. This study was designed to explore the role of variants of two PD-related genes LRRK1 and LRRK2 in a Han Chinese ET population.
Genetic analysis of LRRK1, rs2924835, and LRRK2, rs34594498, rs34410987, and rs33949390 variants was conducted on 200 Han Chinese patients with ET and 434 ethnically matched normal controls.
No statistically significant differences were identified in either genotypic or allelic frequencies of variants between the ET patients and the control cohort (all p > 0.05). Haplotype analysis of three LRRK2 variants (rs34594498, rs34410987, and rs33949390) showed no haplotypes displayed an association with ET risk (all p > 0.05).
The data suggest that LRRK1 variant (rs2924835) and LRRK2 variants (rs34594498, rs34410987, and rs33949390) are not associated with ET in this Han Chinese population.
特发性震颤（ET）是最常见的成人起病的运动障碍之一。ET与帕金森病（PD）在临床和病理上存在重叠，这促使了对ET患者中PD风险变异体关联的研究。本研究旨在探讨两个与PD相关的基因LRRK1和LRRK2的变异体在汉族ET人群中的作用。
对200例汉族ET患者和434例种族匹配的正常对照进行LRRK1基因rs2924835变异体以及LRRK2基因rs34594498、rs34410987和rs33949390变异体的基因分析。
ET患者与对照组之间变异体的基因型或等位基因频率均未发现有统计学意义的差异（所有p>0.05）。对三个LRRK2变异体（rs34594498、rs34410987和rs33949390）的单倍型分析显示，没有单倍型与ET风险相关（所有p>0.05）。
数据表明，在该汉族人群中，LRRK1变异体（rs2924835）和LRRK2变异体（rs34594498、rs34410987和rs33949390）与ET无关。
