Movement Disorders (revue)

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Case-control study of UCHL1 S18Y variant in Parkinson's disease

Identifieur interne : 001385 ( PascalFrancis/Curation ); précédent : 001384; suivant : 001386

Case-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 :

RBID : Pascal:06-0538606

Descripteurs français

English descriptors

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.
pA  
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A08 01  1  ENG  @1 Case-control study of UCHL1 S18Y variant in Parkinson's disease
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A11 02  1    @1 PUONG (Kim-Yoong)
A11 03  1    @1 FOOK-CHONG (Stephanie)
A11 04  1    @1 CHUA (Eva)
A11 05  1    @1 HUI SHEN
A11 06  1    @1 YIH YUEN
A11 07  1    @1 PAVANNI (Ratnagopal)
A11 08  1    @1 WONG (Meng-Cheong)
A11 09  1    @1 PUVAN (Kathiravelu)
A11 10  1    @1 YI ZHAO
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C01 01    ENG  @0 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.
C02 01  X    @0 002B17
C02 02  X    @0 002B17G
C02 03  X    @0 002B17E
C03 01  X  FRE  @0 Système nerveux pathologie @5 01
C03 01  X  ENG  @0 Nervous system diseases @5 01
C03 01  X  SPA  @0 Sistema nervioso patología @5 01
C03 02  X  FRE  @0 Parkinson maladie @5 02
C03 02  X  ENG  @0 Parkinson disease @5 02
C03 02  X  SPA  @0 Parkinson enfermedad @5 02
C03 03  X  FRE  @0 Etude cas témoin @5 09
C03 03  X  ENG  @0 Case control study @5 09
C03 03  X  SPA  @0 Estudio caso control @5 09
C03 04  X  FRE  @0 Polymorphisme @5 10
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C03 04  X  SPA  @0 Polimorfismo @5 10
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C03 05  X  ENG  @0 Survival @5 11
C03 05  X  SPA  @0 Sobrevivencia @5 11
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C07 01  X  ENG  @0 Cerebral disorder @5 37
C07 01  X  SPA  @0 Encéfalo patología @5 37
C07 02  X  FRE  @0 Extrapyramidal syndrome @5 38
C07 02  X  ENG  @0 Extrapyramidal syndrome @5 38
C07 02  X  SPA  @0 Extrapiramidal síndrome @5 38
C07 03  X  FRE  @0 Maladie dégénérative @5 39
C07 03  X  ENG  @0 Degenerative disease @5 39
C07 03  X  SPA  @0 Enfermedad degenerativa @5 39
C07 04  X  FRE  @0 Système nerveux central pathologie @5 40
C07 04  X  ENG  @0 Central nervous system disease @5 40
C07 04  X  SPA  @0 Sistema nervosio central patología @5 40
N21       @1 353
N44 01      @1 OTO
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Pascal:06-0538606

Le document en format XML

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<term>Case control study</term>
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<term>Survival</term>
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<term>Système nerveux pathologie</term>
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<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.</div>
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