Please use this identifier to cite or link to this item:
https://doi.org/10.1038/srep09029
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. https://doi.org/10.1038/srep09029 | 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 | URI: | http://scholarbank.nus.edu.sg/handle/10635/149127 | ISSN: | 2045-2322 | DOI: | 10.1038/srep09029 |
Appears in Collections: | Elements Staff Publications |
Show full item record
Files in This Item:
File | Description | Size | Format | Access Settings | Version | |
---|---|---|---|---|---|---|
srep09029.pdf | 193.45 kB | Adobe PDF | OPEN | None | View/Download |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.