Journal
NEUROBIOLOGY OF AGING
Volume 34, Issue 12, Pages -Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2013.06.010
Keywords
Parkinson's disease; Gene; Lysosomal storage disorder; Association
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Funding
- National Medical Research Council
- Duke Graduate Medical School
- Singapore Millennium Foundation
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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). (C) 2013 Elsevier Inc. All rights reserved.
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