Han Chen1, Lamei Yuan2, Zhi Song1, Xiong Deng2, Zhijian Yang2, Lina Gong1, Xiaohong Zi1, Hao Deng1,2. 1. 1 Department of Neurology, The Third Xiangya Hospital, Central South University , Changsha, China . 2. 2 Center for Experimental Medicine, The Third Xiangya Hospital, Central South University , Changsha, China .
Abstract
AIMS: 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. MATERIALS AND METHODS: 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. RESULTS: 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). CONCLUSIONS: The data suggest that LRRK1 variant (rs2924835) and LRRK2 variants (rs34594498, rs34410987, and rs33949390) are not associated with ET in this Han Chinese population.
AIMS: 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 ETpatients. This study was designed to explore the role of variants of two PD-related genes LRRK1 and LRRK2 in a Han Chinese ET population. MATERIALS AND METHODS: 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. RESULTS: No statistically significant differences were identified in either genotypic or allelic frequencies of variants between the ETpatients 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). CONCLUSIONS: The data suggest that LRRK1 variant (rs2924835) and LRRK2 variants (rs34594498, rs34410987, and rs33949390) are not associated with ET in this Han Chinese population.
Authors: Félix Javier Jiménez-Jiménez; Hortensia Alonso-Navarro; Elena García-Martín; Ignacio Álvarez; Pau Pastor; José A G Agúndez Journal: Pharmaceuticals (Basel) Date: 2021-05-27