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Title: Lrrk2 R1628P variant is a risk factor for essential tremor
Authors: Chao Y.X.
Ng E.Y.
Tan L.
Prakash K.M. 
Au W.-L. 
Zhao Y.
Tan E.-K. 
Issue Date: 2015
Publisher: Nature Publishing Group
Citation: Chao Y.X., Ng E.Y., Tan L., Prakash K.M., Au W.-L., Zhao Y., Tan E.-K. (2015). Lrrk2 R1628P variant is a risk factor for essential tremor. Scientific Reports 5 : 9029. ScholarBank@NUS Repository.
Abstract: Essential tremor (ET) and Parkinson's disease (PD) are two of the most common adult onset movement disorders with overlapping clinical features. PD patients with leucine-rich repeat kinase-2 (LRRK2) mutations may present initially with an ET phenotype. To address the possibility of a common genetic link between ET and PD, we examined the association between a common LRRK2 R1628P gene variant and ET. The LRRK2 R1628P was genotyped in ET cases and matched healthy controls. A total of 1277 subjects comprising of 450 ET cases and 827 controls were included. There were 40 heterozygote (GG to CG) variant out of 450 ET cases (genotypic frequency 8.9%) and 36 heterozygote variant (GG to CG, genotypic frequency 4.3%) and one homozygote variant (GG to CC) out of 827 controls. Subjects carrying the R1628P variant had a twofold increased risk of ET (p = 0.0035, OR = 2.20 and 95% confidence interval is 1.30-3.73). Using a case control methodology, we demonstrated an association between a known PD risk variant, LRRK2 R1628P, with ET. Subjects carrying the R1628P variant had twice the risk of developing ET. The sharing of a similar gene risk variant suggests a possible pathophysiologic link between PD and ET. © 2015, Macmillan Publishers Limited. All rights reserved.
Source Title: Scientific Reports
ISSN: 2045-2322
DOI: 10.1038/srep09029
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