MovDisordV3, PascalFrancis, Corpus, bibRecord, 000A61

Glucocerebrosidase Gene L444P Mutation is a Risk Factor for Parkinson's Disease in Chinese Population

Identifieur interne : 000A61 ( PascalFrancis/Corpus ); précédent : 000A60; suivant : 000A62

Glucocerebrosidase Gene L444P Mutation is a Risk Factor for Parkinson's Disease in Chinese Population

Auteurs : Qi-Ying Sun ; Ji-Feng Guo ; LEI WANG ; Ren-He Yu ; XING ZUO ; Ling-Yan Yao ; QIAN PAN ; KUN XIA ; Bei-Sha Tang

Source :

Movement disorders [ 0885-3185 ] ; 2010.

RBID : Pascal:10-0315063

Descripteurs français

Pascal (Inist)
- Maladie de Parkinson, Sphingolipidose héréditaire de Gaucher, Pathologie du système nerveux, Mutation, Facteur risque, Chinois, Lipide.

English descriptors

KwdEn :
- Chinese, Gaucher disease, Lipids, Mutation, Nervous system diseases, Parkinson disease, Risk factor.

Abstract

An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson's disease (PD) has been reported in several populations. We searched for four common GBA mutations (L444P, F213I, R353W, and N370S) in 402 Chinese PD patients and 413 age- and sex-matched controls. In the PD cohort, 11 patients were found carrying a heterozygous GBA mutation and all of them had the L444P mutation. Heterozygous GBA mutations were detected none in controls. The GBA gene L444P mutation was detected at a significantly higher frequency among PD patients (11/402 = 2.74%), when compared with the control group (0/413): P = 0.0007. To evaluate the possible role of the GBA gene L444P mutation in PD in Ashkenazi Jewish and non-Jewish populations, we conducted a meta-analysis on the topic. In the Chinese population, the GBA gene L444P mutation was detected at a significantly higher frequency among PD patients, when compared with the control group: Z = 3.83, P = 0.0001, OR = 8.42, confidence interval = 95%, 2.83-25.06. In the non-Jewish populations, the difference was obviously significant: Z = 5.76, P < 0.00001, OR = 8.82, confidence interval = 95%, 4.21-18.48. The results suggest that the GBA gene L444P mutation appears to be a risk factor for PD in Chinese population.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A11	`02`	`1`		`@1 GUO (Ji-Feng)`
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A14	`03`			`@1 School of Public Health, Central South University @2 Changsha, Hunan @3 CHN @Z 4 aut.`
A14	`04`			`@1 National Lab of Medical Genetics of China @2 Changsha, Hunan @3 CHN @Z 7 aut. @Z 8 aut. @Z 9 aut.`
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A21				`@1 2010`
A23	`01`			`@0 ENG`
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A44				`@0 0000 @1 © 2010 INIST-CNRS. All rights reserved.`
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C01	`01`		`ENG`	@0 An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson's disease (PD) has been reported in several populations. We searched for four common GBA mutations (L444P, F213I, R353W, and N370S) in 402 Chinese PD patients and 413 age- and sex-matched controls. In the PD cohort, 11 patients were found carrying a heterozygous GBA mutation and all of them had the L444P mutation. Heterozygous GBA mutations were detected none in controls. The GBA gene L444P mutation was detected at a significantly higher frequency among PD patients (11/402 = 2.74%), when compared with the control group (0/413): P = 0.0007. To evaluate the possible role of the GBA gene L444P mutation in PD in Ashkenazi Jewish and non-Jewish populations, we conducted a meta-analysis on the topic. In the Chinese population, the GBA gene L444P mutation was detected at a significantly higher frequency among PD patients, when compared with the control group: Z = 3.83, P = 0.0001, OR = 8.42, confidence interval = 95%, 2.83-25.06. In the non-Jewish populations, the difference was obviously significant: Z = 5.76, P < 0.00001, OR = 8.82, confidence interval = 95%, 4.21-18.48. The results suggest that the GBA gene L444P mutation appears to be a risk factor for PD in Chinese population.
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C03	`07`	`X`	`FRE`	`@0 Lipide @5 78`
C03	`07`	`X`	`ENG`	`@0 Lipids @5 78`
C03	`07`	`X`	`SPA`	`@0 Lípido @5 78`
C07	`01`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 37`
C07	`01`	`X`	`ENG`	`@0 Cerebral disorder @5 37`
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C07	`02`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 38`
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C07	`06`	`X`	`FRE`	`@0 Lipoïdose @5 43`
C07	`06`	`X`	`ENG`	`@0 Lipoidosis @5 43`
C07	`06`	`X`	`SPA`	`@0 Lipoidosis @5 43`
C07	`07`	`X`	`FRE`	`@0 Maladie héréditaire @5 44`
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Format Inist (serveur)

NO :	PASCAL 10-0315063 INIST
ET :	Glucocerebrosidase Gene L444P Mutation is a Risk Factor for Parkinson's Disease in Chinese Population
AU :	SUN (Qi-Ying); GUO (Ji-Feng); LEI WANG; YU (Ren-He); XING ZUO; YAO (Ling-Yan); QIAN PAN; KUN XIA; TANG (Bei-Sha)
AF :	Department of Neurology, Xiangya Hospital, Central South University/Changsha, Hunan/Chine (1 aut., 2 aut., 3 aut., 5 aut., 6 aut., 9 aut.); Neurodegenerative Disorders Research Center, Central South University/Changsha, Hunan/Chine (2 aut., 9 aut.); School of Public Health, Central South University/Changsha, Hunan/Chine (4 aut.); National Lab of Medical Genetics of China/Changsha, Hunan/Chine (7 aut., 8 aut., 9 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 8; Pp. 1005-1011; Bibl. 29 ref.
LA :	Anglais
EA :	An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson's disease (PD) has been reported in several populations. We searched for four common GBA mutations (L444P, F213I, R353W, and N370S) in 402 Chinese PD patients and 413 age- and sex-matched controls. In the PD cohort, 11 patients were found carrying a heterozygous GBA mutation and all of them had the L444P mutation. Heterozygous GBA mutations were detected none in controls. The GBA gene L444P mutation was detected at a significantly higher frequency among PD patients (11/402 = 2.74%), when compared with the control group (0/413): P = 0.0007. To evaluate the possible role of the GBA gene L444P mutation in PD in Ashkenazi Jewish and non-Jewish populations, we conducted a meta-analysis on the topic. In the Chinese population, the GBA gene L444P mutation was detected at a significantly higher frequency among PD patients, when compared with the control group: Z = 3.83, P = 0.0001, OR = 8.42, confidence interval = 95%, 2.83-25.06. In the non-Jewish populations, the difference was obviously significant: Z = 5.76, P < 0.00001, OR = 8.82, confidence interval = 95%, 4.21-18.48. The results suggest that the GBA gene L444P mutation appears to be a risk factor for PD in Chinese population.
CC :	002B17; 002B17G
FD :	Maladie de Parkinson; Sphingolipidose héréditaire de Gaucher; Pathologie du système nerveux; Mutation; Facteur risque; Chinois; Lipide
FG :	Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central; Enzymopathie; Lipoïdose; Maladie héréditaire; Maladie métabolique
ED :	Parkinson disease; Gaucher disease; Nervous system diseases; Mutation; Risk factor; Chinese; Lipids
EG :	Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease; Enzymopathy; Lipoidosis; Genetic disease; Metabolic diseases
SD :	Parkinson enfermedad; Esfingolipidosis hereditaria Gaucher; Sistema nervioso patología; Mutación; Factor riesgo; Chino; Lípido
LO :	INIST-20953.354000170524820060
ID :	10-0315063

Links to Exploration step

Pascal:10-0315063

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Glucocerebrosidase Gene L444P Mutation is a Risk Factor for Parkinson's Disease in Chinese Population</title>
<author><name sortKey="Sun, Qi Ying" sort="Sun, Qi Ying" uniqKey="Sun Q" first="Qi-Ying" last="Sun">Qi-Ying Sun</name>
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<author><name sortKey="Lei Wang" sort="Lei Wang" uniqKey="Lei Wang" last="Lei Wang">LEI WANG</name>
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<author><name sortKey="Yu, Ren He" sort="Yu, Ren He" uniqKey="Yu R" first="Ren-He" last="Yu">Ren-He Yu</name>
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<author><name sortKey="Xing Zuo" sort="Xing Zuo" uniqKey="Xing Zuo" last="Xing Zuo">XING ZUO</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Xiangya Hospital, Central South University</s1>
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<author><name sortKey="Yao, Ling Yan" sort="Yao, Ling Yan" uniqKey="Yao L" first="Ling-Yan" last="Yao">Ling-Yan Yao</name>
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<author><name sortKey="Qian Pan" sort="Qian Pan" uniqKey="Qian Pan" last="Qian Pan">QIAN PAN</name>
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<author><name sortKey="Kun Xia" sort="Kun Xia" uniqKey="Kun Xia" last="Kun Xia">KUN XIA</name>
<affiliation><inist:fA14 i1="04"><s1>National Lab of Medical Genetics of China</s1>
<s2>Changsha, Hunan</s2>
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<author><name sortKey="Tang, Bei Sha" sort="Tang, Bei Sha" uniqKey="Tang B" first="Bei-Sha" last="Tang">Bei-Sha Tang</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Xiangya Hospital, Central South University</s1>
<s2>Changsha, Hunan</s2>
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<affiliation><inist:fA14 i1="02"><s1>Neurodegenerative Disorders Research Center, Central South University</s1>
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<front><div type="abstract" xml:lang="en">An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson's disease (PD) has been reported in several populations. We searched for four common GBA mutations (L444P, F213I, R353W, and N370S) in 402 Chinese PD patients and 413 age- and sex-matched controls. In the PD cohort, 11 patients were found carrying a heterozygous GBA mutation and all of them had the L444P mutation. Heterozygous GBA mutations were detected none in controls. The GBA gene L444P mutation was detected at a significantly higher frequency among PD patients (11/402 = 2.74%), when compared with the control group (0/413): P = 0.0007. To evaluate the possible role of the GBA gene L444P mutation in PD in Ashkenazi Jewish and non-Jewish populations, we conducted a meta-analysis on the topic. In the Chinese population, the GBA gene L444P mutation was detected at a significantly higher frequency among PD patients, when compared with the control group: Z = 3.83, P = 0.0001, OR = 8.42, confidence interval = 95%, 2.83-25.06. In the non-Jewish populations, the difference was obviously significant: Z = 5.76, P < 0.00001, OR = 8.82, confidence interval = 95%, 4.21-18.48. The results suggest that the GBA gene L444P mutation appears to be a risk factor for PD in Chinese population.</div>
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<sZ>9 aut.</sZ>
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<fC01 i1="01" l="ENG"><s0>An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson's disease (PD) has been reported in several populations. We searched for four common GBA mutations (L444P, F213I, R353W, and N370S) in 402 Chinese PD patients and 413 age- and sex-matched controls. In the PD cohort, 11 patients were found carrying a heterozygous GBA mutation and all of them had the L444P mutation. Heterozygous GBA mutations were detected none in controls. The GBA gene L444P mutation was detected at a significantly higher frequency among PD patients (11/402 = 2.74%), when compared with the control group (0/413): P = 0.0007. To evaluate the possible role of the GBA gene L444P mutation in PD in Ashkenazi Jewish and non-Jewish populations, we conducted a meta-analysis on the topic. In the Chinese population, the GBA gene L444P mutation was detected at a significantly higher frequency among PD patients, when compared with the control group: Z = 3.83, P = 0.0001, OR = 8.42, confidence interval = 95%, 2.83-25.06. In the non-Jewish populations, the difference was obviously significant: Z = 5.76, P < 0.00001, OR = 8.82, confidence interval = 95%, 4.21-18.48. The results suggest that the GBA gene L444P mutation appears to be a risk factor for PD in Chinese population.</s0>
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<ET>Glucocerebrosidase Gene L444P Mutation is a Risk Factor for Parkinson's Disease in Chinese Population</ET>
<AU>SUN (Qi-Ying); GUO (Ji-Feng); LEI WANG; YU (Ren-He); XING ZUO; YAO (Ling-Yan); QIAN PAN; KUN XIA; TANG (Bei-Sha)</AU>
<AF>Department of Neurology, Xiangya Hospital, Central South University/Changsha, Hunan/Chine (1 aut., 2 aut., 3 aut., 5 aut., 6 aut., 9 aut.); Neurodegenerative Disorders Research Center, Central South University/Changsha, Hunan/Chine (2 aut., 9 aut.); School of Public Health, Central South University/Changsha, Hunan/Chine (4 aut.); National Lab of Medical Genetics of China/Changsha, Hunan/Chine (7 aut., 8 aut., 9 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 8; Pp. 1005-1011; Bibl. 29 ref.</SO>
<LA>Anglais</LA>
<EA>An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson's disease (PD) has been reported in several populations. We searched for four common GBA mutations (L444P, F213I, R353W, and N370S) in 402 Chinese PD patients and 413 age- and sex-matched controls. In the PD cohort, 11 patients were found carrying a heterozygous GBA mutation and all of them had the L444P mutation. Heterozygous GBA mutations were detected none in controls. The GBA gene L444P mutation was detected at a significantly higher frequency among PD patients (11/402 = 2.74%), when compared with the control group (0/413): P = 0.0007. To evaluate the possible role of the GBA gene L444P mutation in PD in Ashkenazi Jewish and non-Jewish populations, we conducted a meta-analysis on the topic. In the Chinese population, the GBA gene L444P mutation was detected at a significantly higher frequency among PD patients, when compared with the control group: Z = 3.83, P = 0.0001, OR = 8.42, confidence interval = 95%, 2.83-25.06. In the non-Jewish populations, the difference was obviously significant: Z = 5.76, P < 0.00001, OR = 8.82, confidence interval = 95%, 4.21-18.48. The results suggest that the GBA gene L444P mutation appears to be a risk factor for PD in Chinese population.</EA>
<CC>002B17; 002B17G</CC>
<FD>Maladie de Parkinson; Sphingolipidose héréditaire de Gaucher; Pathologie du   système nerveux; Mutation; Facteur risque; Chinois; Lipide</FD>
<FG>Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du   système nerveux central; Enzymopathie; Lipoïdose; Maladie héréditaire; Maladie métabolique</FG>
<ED>Parkinson disease; Gaucher disease; Nervous system diseases; Mutation; Risk factor; Chinese; Lipids</ED>
<EG>Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease; Enzymopathy; Lipoidosis; Genetic disease; Metabolic diseases</EG>
<SD>Parkinson enfermedad; Esfingolipidosis hereditaria Gaucher; Sistema nervioso patología; Mutación; Factor riesgo; Chino; Lípido</SD>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Glucocerebrosidase Gene L444P Mutation is a Risk Factor for Parkinson's Disease in Chinese Population

Glucocerebrosidase Gene L444P Mutation is a Risk Factor for Parkinson's Disease in Chinese Population

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