Please use this identifier to cite or link to this item: https://doi.org/10.1038/srep09029
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dc.titleLrrk2 R1628P variant is a risk factor for essential tremor
dc.contributor.authorChao Y.X.
dc.contributor.authorNg E.Y.
dc.contributor.authorTan L.
dc.contributor.authorPrakash K.M.
dc.contributor.authorAu W.-L.
dc.contributor.authorZhao Y.
dc.contributor.authorTan E.-K.
dc.date.accessioned2018-11-27T07:42:23Z
dc.date.available2018-11-27T07:42:23Z
dc.date.issued2015
dc.identifier.citationChao 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
dc.identifier.issn2045-2322
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/149127
dc.description.abstractEssential 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.
dc.publisherNature Publishing Group
dc.typeArticle
dc.contributor.departmentDUKE-NUS MEDICAL SCHOOL
dc.description.doi10.1038/srep09029
dc.description.sourcetitleScientific Reports
dc.description.volume5
dc.description.page9029
dc.published.statepublished
dc.grant.fundingagencyNNI
dc.grant.fundingagencyNRF
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