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Title: A rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease
Authors: Foo, J.-N.
Liany, H.
Bei, J.-X.
Yu, X.-Q.
Liu, J.
Au, W.-L.
Prakash, K.M.
Tan, L.C.
Tan, E.-K. 
Keywords: Gene
Lysosomal storage disorder Association
Parkinson's disease
Issue Date: Dec-2013
Citation: Foo, J.-N., Liany, H., Bei, J.-X., Yu, X.-Q., Liu, J., Au, W.-L., Prakash, K.M., Tan, L.C., Tan, E.-K. (2013-12). A rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease. Neurobiology of Aging 34 (12) : 2890e13-2890e15. ScholarBank@NUS Repository.
Abstract: To investigate the role of mutations in the sphingomyelin phosphodiesterase (SMPD1) gene in Parkinson's disease (PD) we sequenced all the exons of this gene in 198 Chinese PD cases and matched healthy control subjects. We identified 4 rare variants in SMPD1 (p.P332R, p.Y500H, p.P533L, and p.R591C) that were present only in cases and not in control subjects. Interestingly, 2 of these variants were previously reported in Chinese Niemann-Pick disease patients. Next, we genotyped these variants in another 806 PD cases and 7481 control subjects. We identified a novel, rare SMPD1 variant (p.R591C) which increased the risk of PD (p= 0.009). © 2013 Elsevier Inc.
Source Title: Neurobiology of Aging
ISSN: 01974580
DOI: 10.1016/j.neurobiolaging.2013.06.010
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