Case–control study of UCHL1 S18Y variant in Parkinson's disease
Identifieur interne : 003544 ( Main/Exploration ); précédent : 003543; suivant : 003545Case–control study of UCHL1 S18Y variant in Parkinson's disease
Auteurs : Eng-King Tan [Singapour] ; Kim-Yoong Puong [Singapour] ; Stephanie Fook-Chong [Singapour] ; Eva Chua [Singapour] ; Hui Shen [Singapour] ; Yih Yuen [Singapour] ; Ratnagopal Pavanni [Singapour] ; Meng-Cheong Wong [Singapour] ; Kathiravelu Puvan [Singapour] ; Yi Zhao [Singapour]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-10.
Descripteurs français
- Pascal (Inist)
- Wicri :
- geographic : Singapour.
English descriptors
- KwdEn :
- Adult, Age Factors, Aged, Aged, 80 and over, Anxiety, Anxiety (epidemiology), Case control study, Case-Control Studies, Female, Follow-Up Studies, Genetic Variation (genetics), Genotype, Hemifacial Spasm (epidemiology), Hemifacial Spasm (psychology), Hemifacial spasm, Humans, Male, Middle Aged, Multivariate Analysis, Nervous system diseases, Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Polymorphism, Polymorphism, Genetic (genetics), Reference Values, Severity of Illness Index, Singapore, Survival, UCHL1, Ubiquitin Thiolesterase (genetics), anxiety, case–control study, hemifacial spasm, polymorphism, survival.
- MESH :
- chemical , genetics : Ubiquitin Thiolesterase.
- geographic : Singapore.
- epidemiology : Anxiety, Hemifacial Spasm.
- genetics : Genetic Variation, Parkinson Disease, Polymorphism, Genetic.
- psychology : Hemifacial Spasm.
- Adult, Age Factors, Aged, Aged, 80 and over, Case-Control Studies, Female, Follow-Up Studies, Genotype, Humans, Male, Middle Aged, Multivariate Analysis, Reference Values, Severity of Illness Index.
Abstract
A recent meta‐analysis observed a greater significant inverse association of the ubiquitin carboxy‐terminal hydrolase L1 (UCHL1) S18Y variant with Parkinson's disease (PD) for Asian (predominantly Japanese) populations compared with Caucasian populations. We performed an independent case–control study in 335 PD and 341 control subjects with data from a Chinese population to investigate the age‐of‐onset effect of the UCHL1 variant in PD. The Y/Y and Y/S genotypes were less frequent in the PD young‐onset group than in controls and the frequency of the Y alleles was higher in young controls compared to young‐onset PD (age at examination ≤ 65 years; P = 0.003). Multivariate analysis revealed the Y/Y genotype was significantly lower (P = 0.008) in the young‐onset PD (Y/Y vs. S/S: odds ratio [OR]: 0.42; 95% confidence interval [CI]: 0.24, 0.74; S/Y vs. S/S: OR: 0.66, 95% CI: 0.41, 1.08) compared with controls, but this difference was not seen for the late‐onset PD. Kaplan–Meier analysis carried out on PD subjects demonstrated that the Y/Y genotype was associated with a later onset of PD than Y/S plus S/S genotypes (P = 0.05). We provided an independent confirmation of the protective effect of the UCHL1 S18Y variant (Y/Y genotype) against PD in young Chinese subjects. Further functional studies of the S18Y variant in both cell and animal models will be of interest. © 2006 Movement Disorder Society
Url:
- https://api.istex.fr/document/4F0430EA869EC504D23D1A42BF5B8581046B8D4E/fulltext/pdf
- https://api.istex.fr/document/C6900B05317649F31A48DCAD5943A2C851E63278/fulltext/pdf
DOI: 10.1002/mds.21064
Affiliations:
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<term>Aged, 80 and over</term>
<term>Anxiety</term>
<term>Anxiety (epidemiology)</term>
<term>Case control study</term>
<term>Case-Control Studies</term>
<term>Female</term>
<term>Follow-Up Studies</term>
<term>Genetic Variation (genetics)</term>
<term>Genotype</term>
<term>Hemifacial Spasm (epidemiology)</term>
<term>Hemifacial Spasm (psychology)</term>
<term>Hemifacial spasm</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Multivariate Analysis</term>
<term>Nervous system diseases</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson disease</term>
<term>Parkinson's disease</term>
<term>Polymorphism</term>
<term>Polymorphism, Genetic (genetics)</term>
<term>Reference Values</term>
<term>Severity of Illness Index</term>
<term>Singapore</term>
<term>Survival</term>
<term>UCHL1</term>
<term>Ubiquitin Thiolesterase (genetics)</term>
<term>anxiety</term>
<term>case–control study</term>
<term>hemifacial spasm</term>
<term>polymorphism</term>
<term>survival</term>
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<term>Hemifacial Spasm</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Variation</term>
<term>Parkinson Disease</term>
<term>Polymorphism, Genetic</term>
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<keywords scheme="MESH" qualifier="psychology" xml:lang="en"><term>Hemifacial Spasm</term>
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<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Age Factors</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Case-Control Studies</term>
<term>Female</term>
<term>Follow-Up Studies</term>
<term>Genotype</term>
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<term>Middle Aged</term>
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<term>Severity of Illness Index</term>
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<term>Etude cas témoin</term>
<term>Hémispasme facial</term>
<term>Parkinson maladie</term>
<term>Polymorphisme</term>
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<term>Système nerveux pathologie</term>
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<front><div type="abstract" xml:lang="en">A recent meta‐analysis observed a greater significant inverse association of the ubiquitin carboxy‐terminal hydrolase L1 (UCHL1) S18Y variant with Parkinson's disease (PD) for Asian (predominantly Japanese) populations compared with Caucasian populations. We performed an independent case–control study in 335 PD and 341 control subjects with data from a Chinese population to investigate the age‐of‐onset effect of the UCHL1 variant in PD. The Y/Y and Y/S genotypes were less frequent in the PD young‐onset group than in controls and the frequency of the Y alleles was higher in young controls compared to young‐onset PD (age at examination ≤ 65 years; P = 0.003). Multivariate analysis revealed the Y/Y genotype was significantly lower (P = 0.008) in the young‐onset PD (Y/Y vs. S/S: odds ratio [OR]: 0.42; 95% confidence interval [CI]: 0.24, 0.74; S/Y vs. S/S: OR: 0.66, 95% CI: 0.41, 1.08) compared with controls, but this difference was not seen for the late‐onset PD. Kaplan–Meier analysis carried out on PD subjects demonstrated that the Y/Y genotype was associated with a later onset of PD than Y/S plus S/S genotypes (P = 0.05). We provided an independent confirmation of the protective effect of the UCHL1 S18Y variant (Y/Y genotype) against PD in young Chinese subjects. Further functional studies of the S18Y variant in both cell and animal models will be of interest. © 2006 Movement Disorder Society</div>
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<tree><country name="Singapour"><noRegion><name sortKey="Tan, Eng Ing" sort="Tan, Eng Ing" uniqKey="Tan E" first="Eng-King" last="Tan">Eng-King Tan</name>
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<name sortKey="Pavanni, Ratnagopal" sort="Pavanni, Ratnagopal" uniqKey="Pavanni R" first="Ratnagopal" last="Pavanni">Ratnagopal Pavanni</name>
<name sortKey="Puong, Kim Oong" sort="Puong, Kim Oong" uniqKey="Puong K" first="Kim-Yoong" last="Puong">Kim-Yoong Puong</name>
<name sortKey="Puvan, Kathiravelu" sort="Puvan, Kathiravelu" uniqKey="Puvan K" first="Kathiravelu" last="Puvan">Kathiravelu Puvan</name>
<name sortKey="Puvan, Kathiravelu" sort="Puvan, Kathiravelu" uniqKey="Puvan K" first="Kathiravelu" last="Puvan">Kathiravelu Puvan</name>
<name sortKey="Shen, Hui" sort="Shen, Hui" uniqKey="Shen H" first="Hui" last="Shen">Hui Shen</name>
<name sortKey="Shen, Hui" sort="Shen, Hui" uniqKey="Shen H" first="Hui" last="Shen">Hui Shen</name>
<name sortKey="Tan, Eng Ing" sort="Tan, Eng Ing" uniqKey="Tan E" first="Eng-King" last="Tan">Eng-King Tan</name>
<name sortKey="Tan, Eng Ing" sort="Tan, Eng Ing" uniqKey="Tan E" first="Eng-King" last="Tan">Eng-King Tan</name>
<name sortKey="Wong, Meng Heong" sort="Wong, Meng Heong" uniqKey="Wong M" first="Meng-Cheong" last="Wong">Meng-Cheong Wong</name>
<name sortKey="Wong, Meng Heong" sort="Wong, Meng Heong" uniqKey="Wong M" first="Meng-Cheong" last="Wong">Meng-Cheong Wong</name>
<name sortKey="Yuen, Yih" sort="Yuen, Yih" uniqKey="Yuen Y" first="Yih" last="Yuen">Yih Yuen</name>
<name sortKey="Zhao, Yi" sort="Zhao, Yi" uniqKey="Zhao Y" first="Yi" last="Zhao">Yi Zhao</name>
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