Glucocerebrosidase Gene L444P mutation is a risk factor for Parkinson's disease in Chinese population
Identifieur interne : 002101 ( Main/Merge ); précédent : 002100; suivant : 002102Glucocerebrosidase Gene L444P mutation is a risk factor for Parkinson's disease in Chinese population
Auteurs : Qi-Ying Sun [République populaire de Chine] ; Ji-Feng Guo [République populaire de Chine] ; Lei Wang [République populaire de Chine] ; Ren-He Yu [République populaire de Chine] ; Xing Zuo [République populaire de Chine] ; Ling-Yan Yao [République populaire de Chine] ; Qian Pan [République populaire de Chine] ; Kun Xia [République populaire de Chine] ; Bei-Sha Tang [République populaire de Chine]Source :
- Movement Disorders [ 0885-3185 ] ; 2010-06-15.
English descriptors
- KwdEn :
- Adult, Asian Continental Ancestry Group (genetics), Case-Control Studies, Chi-Square Distribution, DNA Mutational Analysis (methods), Female, Gaucher disease, Glucosylceramidase (genetics), Humans, Leucine (genetics), Male, Meta-Analysis as Topic, Middle Aged, Mutation (genetics), Parkinson Disease (genetics), Parkinson's disease, Proline (genetics), glucocerebrosidase, meta‐analysis.
- MESH :
- chemical , genetics : Glucosylceramidase, Leucine, Proline.
- genetics : Asian Continental Ancestry Group, Mutation, Parkinson Disease.
- methods : DNA Mutational Analysis.
- Adult, Case-Control Studies, Chi-Square Distribution, Female, Humans, Male, Meta-Analysis as Topic, Middle Aged.
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. © 2010 Movement Disorder Society
Url:
DOI: 10.1002/mds.23009
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Guo</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Wang, Lei" sort="Wang, Lei" uniqKey="Wang L" first="Lei" last="Wang">Lei Wang</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Yu, Ren E" sort="Yu, Ren E" uniqKey="Yu R" first="Ren-He" last="Yu">Ren-He Yu</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>School of Public Health, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Zuo, Xing" sort="Zuo, Xing" uniqKey="Zuo X" first="Xing" last="Zuo">Xing Zuo</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Yao, Ling An" sort="Yao, Ling An" uniqKey="Yao L" first="Ling-Yan" last="Yao">Ling-Yan Yao</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Pan, Qian" sort="Pan, Qian" uniqKey="Pan Q" first="Qian" last="Pan">Qian Pan</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>National Lab of Medical Genetics of China, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Xia, Kun" sort="Xia, Kun" uniqKey="Xia K" first="Kun" last="Xia">Kun Xia</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>National Lab of Medical Genetics of China, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Tang, Bei Ha" sort="Tang, Bei Ha" uniqKey="Tang B" first="Bei-Sha" last="Tang">Bei-Sha Tang</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>National Lab of Medical Genetics of China, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-06-15">2010-06-15</date><biblScope unit="vol">25</biblScope><biblScope unit="issue">8</biblScope><biblScope unit="page" from="1005">1005</biblScope><biblScope unit="page" to="1011">1011</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">16149A7F8E426CD71A6BCB6AF17A7A9D021781F5</idno><idno type="DOI">10.1002/mds.23009</idno><idno type="ArticleID">MDS23009</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Asian Continental Ancestry Group (genetics)</term><term>Case-Control Studies</term><term>Chi-Square Distribution</term><term>DNA Mutational Analysis (methods)</term><term>Female</term><term>Gaucher disease</term><term>Glucosylceramidase (genetics)</term><term>Humans</term><term>Leucine (genetics)</term><term>Male</term><term>Meta-Analysis as Topic</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (genetics)</term><term>Parkinson's disease</term><term>Proline (genetics)</term><term>glucocerebrosidase</term><term>meta‐analysis</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glucosylceramidase</term><term>Leucine</term><term>Proline</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Asian Continental Ancestry Group</term><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>DNA Mutational Analysis</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Case-Control Studies</term><term>Chi-Square Distribution</term><term>Female</term><term>Humans</term><term>Male</term><term>Meta-Analysis as Topic</term><term>Middle Aged</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><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. © 2010 Movement Disorder Society</div></front></TEI><double doi="10.1002/mds.23009"><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Glucocerebrosidase Gene L444P mutation is a risk factor for Parkinson's disease in Chinese population</title><author><name sortKey="Sun, Qi Ing" sort="Sun, Qi Ing" uniqKey="Sun Q" first="Qi-Ying" last="Sun">Qi-Ying Sun</name></author><author><name sortKey="Guo, Ji Eng" sort="Guo, Ji Eng" uniqKey="Guo J" first="Ji-Feng" last="Guo">Ji-Feng Guo</name></author><author><name sortKey="Wang, Lei" sort="Wang, Lei" uniqKey="Wang L" first="Lei" last="Wang">Lei Wang</name></author><author><name sortKey="Yu, Ren E" sort="Yu, Ren E" uniqKey="Yu R" first="Ren-He" last="Yu">Ren-He Yu</name></author><author><name sortKey="Zuo, Xing" sort="Zuo, Xing" uniqKey="Zuo X" first="Xing" last="Zuo">Xing Zuo</name></author><author><name sortKey="Yao, Ling An" sort="Yao, Ling An" uniqKey="Yao L" first="Ling-Yan" last="Yao">Ling-Yan Yao</name></author><author><name sortKey="Pan, Qian" sort="Pan, Qian" uniqKey="Pan Q" first="Qian" last="Pan">Qian Pan</name></author><author><name sortKey="Xia, Kun" sort="Xia, Kun" uniqKey="Xia K" first="Kun" last="Xia">Kun Xia</name></author><author><name sortKey="Tang, Bei Ha" sort="Tang, Bei Ha" uniqKey="Tang B" first="Bei-Sha" last="Tang">Bei-Sha Tang</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:16149A7F8E426CD71A6BCB6AF17A7A9D021781F5</idno><date when="2010" year="2010">2010</date><idno type="doi">10.1002/mds.23009</idno><idno type="url">https://api.istex.fr/document/16149A7F8E426CD71A6BCB6AF17A7A9D021781F5/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001C42</idno><idno type="wicri:Area/Istex/Curation">001C42</idno><idno type="wicri:Area/Istex/Checkpoint">000944</idno><idno type="wicri:doubleKey">0885-3185:2010:Sun Q:glucocerebrosidase:gene:l</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Glucocerebrosidase Gene L444P mutation is a risk factor for Parkinson's disease in Chinese population</title><author><name sortKey="Sun, Qi Ing" sort="Sun, Qi Ing" uniqKey="Sun Q" first="Qi-Ying" last="Sun">Qi-Ying Sun</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Guo, Ji Eng" sort="Guo, Ji Eng" uniqKey="Guo J" first="Ji-Feng" last="Guo">Ji-Feng Guo</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Wang, Lei" sort="Wang, Lei" uniqKey="Wang L" first="Lei" last="Wang">Lei Wang</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Yu, Ren E" sort="Yu, Ren E" uniqKey="Yu R" first="Ren-He" last="Yu">Ren-He Yu</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>School of Public Health, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Zuo, Xing" sort="Zuo, Xing" uniqKey="Zuo X" first="Xing" last="Zuo">Xing Zuo</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Yao, Ling An" sort="Yao, Ling An" uniqKey="Yao L" first="Ling-Yan" last="Yao">Ling-Yan Yao</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Pan, Qian" sort="Pan, Qian" uniqKey="Pan Q" first="Qian" last="Pan">Qian Pan</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>National Lab of Medical Genetics of China, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Xia, Kun" sort="Xia, Kun" uniqKey="Xia K" first="Kun" last="Xia">Kun Xia</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>National Lab of Medical Genetics of China, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Tang, Bei Ha" sort="Tang, Bei Ha" uniqKey="Tang B" first="Bei-Sha" last="Tang">Bei-Sha Tang</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>National Lab of Medical Genetics of China, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-06-15">2010-06-15</date><biblScope unit="vol">25</biblScope><biblScope unit="issue">8</biblScope><biblScope unit="page" from="1005">1005</biblScope><biblScope unit="page" to="1011">1011</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">16149A7F8E426CD71A6BCB6AF17A7A9D021781F5</idno><idno type="DOI">10.1002/mds.23009</idno><idno type="ArticleID">MDS23009</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Gaucher disease</term><term>Parkinson's disease</term><term>glucocerebrosidase</term><term>meta‐analysis</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><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. © 2010 Movement Disorder Society</div></front></TEI></ISTEX><PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">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><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Guo, Ji Feng" sort="Guo, Ji Feng" uniqKey="Guo J" first="Ji-Feng" last="Guo">Ji-Feng Guo</name></author><author><name sortKey="Wang, Lei" sort="Wang, Lei" uniqKey="Wang L" first="Lei" last="Wang">Lei Wang</name></author><author><name sortKey="Yu, Ren He" sort="Yu, Ren He" uniqKey="Yu R" first="Ren-He" last="Yu">Ren-He Yu</name></author><author><name sortKey="Zuo, Xing" sort="Zuo, Xing" uniqKey="Zuo X" first="Xing" last="Zuo">Xing Zuo</name></author><author><name sortKey="Yao, Ling Yan" sort="Yao, Ling Yan" uniqKey="Yao L" first="Ling-Yan" last="Yao">Ling-Yan Yao</name></author><author><name sortKey="Pan, Qian" sort="Pan, Qian" uniqKey="Pan Q" first="Qian" last="Pan">Qian Pan</name></author><author><name sortKey="Xia, Kun" sort="Xia, Kun" uniqKey="Xia K" first="Kun" last="Xia">Kun Xia</name></author><author><name sortKey="Tang, Bei Sha" sort="Tang, Bei Sha" uniqKey="Tang B" first="Bei-Sha" last="Tang">Bei-Sha Tang</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2010">2010</date><idno type="doi">10.1002/mds.23009</idno><idno type="RBID">pubmed:20131388</idno><idno type="pmid">20131388</idno><idno type="wicri:Area/PubMed/Corpus">001984</idno><idno type="wicri:Area/PubMed/Curation">001984</idno><idno type="wicri:Area/PubMed/Checkpoint">001861</idno><idno type="wicri:Area/Ncbi/Merge">002A18</idno><idno type="wicri:Area/Ncbi/Curation">002A18</idno><idno type="wicri:Area/Ncbi/Checkpoint">002A18</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">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><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Guo, Ji Feng" sort="Guo, Ji Feng" uniqKey="Guo J" first="Ji-Feng" last="Guo">Ji-Feng Guo</name></author><author><name sortKey="Wang, Lei" sort="Wang, Lei" uniqKey="Wang L" first="Lei" last="Wang">Lei Wang</name></author><author><name sortKey="Yu, Ren He" sort="Yu, Ren He" uniqKey="Yu R" first="Ren-He" last="Yu">Ren-He Yu</name></author><author><name sortKey="Zuo, Xing" sort="Zuo, Xing" uniqKey="Zuo X" first="Xing" last="Zuo">Xing Zuo</name></author><author><name sortKey="Yao, Ling Yan" sort="Yao, Ling Yan" uniqKey="Yao L" first="Ling-Yan" last="Yao">Ling-Yan Yao</name></author><author><name sortKey="Pan, Qian" sort="Pan, Qian" uniqKey="Pan Q" first="Qian" last="Pan">Qian Pan</name></author><author><name sortKey="Xia, Kun" sort="Xia, Kun" uniqKey="Xia K" first="Kun" last="Xia">Kun Xia</name></author><author><name sortKey="Tang, Bei Sha" sort="Tang, Bei Sha" uniqKey="Tang B" first="Bei-Sha" last="Tang">Bei-Sha Tang</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Asian Continental Ancestry Group (genetics)</term><term>Case-Control Studies</term><term>Chi-Square Distribution</term><term>DNA Mutational Analysis (methods)</term><term>Female</term><term>Glucosylceramidase (genetics)</term><term>Humans</term><term>Leucine (genetics)</term><term>Male</term><term>Meta-Analysis as Topic</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (genetics)</term><term>Proline (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glucosylceramidase</term><term>Leucine</term><term>Proline</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Asian Continental Ancestry Group</term><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>DNA Mutational Analysis</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Case-Control Studies</term><term>Chi-Square Distribution</term><term>Female</term><term>Humans</term><term>Male</term><term>Meta-Analysis as Topic</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><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></front></TEI></PubMed></double></record>Pour manipuler ce document sous Unix (Dilib)
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