A rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease

Jia Nee Foo; Herty Liany; Jin Xin Bei; Xue Qing Yu; Jianjun Liu; Wing Lok Au; Kumar M. Prakash; Louis C. Tan; Eng King Tan

doi:10.1016/j.neurobiolaging.2013.06.010

A rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease

Jia Nee Foo, Herty Liany, Jin Xin Bei, Xue Qing Yu, Jianjun Liu, Wing Lok Au, Kumar M. Prakash, Louis C. Tan, Eng King Tan^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

76 Citations (Scopus)

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).

Original language	English
Pages (from-to)	2890.e13-2890.e15
Journal	Neurobiology of Aging
Volume	34
Issue number	12
DOIs	https://doi.org/10.1016/j.neurobiolaging.2013.06.010
Publication status	Published - Dec 2013
Externally published	Yes

ASJC Scopus Subject Areas

General Neuroscience
Ageing
Clinical Neurology
Developmental Biology
Geriatrics and Gerontology

Keywords

Gene
Lysosomal storage disorder Association
Parkinson's disease

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10.1016/j.neurobiolaging.2013.06.010

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title = "A rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease",

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).",

keywords = "Gene, Lysosomal storage disorder Association, Parkinson's disease",

author = "Foo, {Jia Nee} and Herty Liany and Bei, {Jin Xin} and Yu, {Xue Qing} and Jianjun Liu and Au, {Wing Lok} and Prakash, {Kumar M.} and Tan, {Louis C.} and Tan, {Eng King}",

year = "2013",

month = dec,

doi = "10.1016/j.neurobiolaging.2013.06.010",

language = "English",

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pages = "2890.e13--2890.e15",

journal = "Neurobiology of Aging",

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T1 - A rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease

AU - Foo, Jia Nee

AU - Liany, Herty

AU - Bei, Jin Xin

AU - Yu, Xue Qing

AU - Liu, Jianjun

AU - Au, Wing Lok

AU - Prakash, Kumar M.

AU - Tan, Louis C.

AU - Tan, Eng King

PY - 2013/12

Y1 - 2013/12

N2 - 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).

AB - 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).

KW - Gene

KW - Lysosomal storage disorder Association

KW - Parkinson's disease

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SN - 0197-4580

VL - 34

SP - 2890.e13-2890.e15

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JF - Neurobiology of Aging

IS - 12

ER -

A rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease

Abstract

ASJC Scopus Subject Areas

Keywords

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