Analysis of the glucocerebrosidase gene in Parkinson's disease
Identifieur interne : 002D50 ( Main/Exploration ); précédent : 002D49; suivant : 002D51Analysis of the glucocerebrosidase gene in Parkinson's disease
Auteurs : Christine Sato [Canada] ; Angharad Morgan [Canada] ; Anthony E. Lang [Canada] ; Shabnam Salehi-Rad [Canada] ; Toshitaka Kawarai [Canada] ; YAN MENG [États-Unis] ; Peter N. Ray [Canada] ; Lindsay A. Farrer [États-Unis] ; Peter St George-Hyslop [Canada] ; Ekaterina Rogaeva [Canada]Source :
- Movement disorders [ 0885-3185 ] ; 2004.
Descripteurs français
- Pascal (Inist)
English descriptors
Abstract
Parkinson's disease (PD) is a common progressive neurodegenerative disorder characterized clinically by a combination of motor symptoms. Identifying novel PD genetic risk factors is important for understanding its pathogenesis. A recent study suggested that up to 21% of subjects with PD may have mutations in the glucocerebrosidase (GBA) gene. We investigated the GBA gene for mutations in 88 PD cases and 122 normal controls and detected the presence of heterozygous GBA mutations in 5 PD cases and in 1 control. Sequencing of the entire open reading frame of the GBA gene in a subset of 25 cases with early-onset PD (<50 years of age) uncovered no additional mutations. Our results demonstrate a marginally significant association of GBA mutations with PD and suggest that variations in the GBA gene may constitute a rare susceptibility factor for PD (P = 0.048).
Affiliations:
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Lang</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Movement Disorders Centre, Toronto Western Hospital, University of Toronto</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>3 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Salehi Rad, Shabnam" sort="Salehi Rad, Shabnam" uniqKey="Salehi Rad S" first="Shabnam" last="Salehi-Rad">Shabnam Salehi-Rad</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Kawarai, Toshitaka" sort="Kawarai, Toshitaka" uniqKey="Kawarai T" first="Toshitaka" last="Kawarai">Toshitaka Kawarai</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Yan Meng" sort="Yan Meng" uniqKey="Yan Meng" last="Yan Meng">YAN MENG</name><affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Boston University, School of Medicine</s1><s2>Boston, Massachusetts</s2><s3>USA</s3><sZ>6 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Ray, Peter N" sort="Ray, Peter N" uniqKey="Ray P" first="Peter N." last="Ray">Peter N. 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Lang</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Movement Disorders Centre, Toronto Western Hospital, University of Toronto</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>3 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Salehi Rad, Shabnam" sort="Salehi Rad, Shabnam" uniqKey="Salehi Rad S" first="Shabnam" last="Salehi-Rad">Shabnam Salehi-Rad</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Kawarai, Toshitaka" sort="Kawarai, Toshitaka" uniqKey="Kawarai T" first="Toshitaka" last="Kawarai">Toshitaka Kawarai</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author><author><name sortKey="Yan Meng" sort="Yan Meng" uniqKey="Yan Meng" last="Yan Meng">YAN MENG</name><affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Boston University, School of Medicine</s1><s2>Boston, Massachusetts</s2><s3>USA</s3><sZ>6 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Ray, Peter N" sort="Ray, Peter N" uniqKey="Ray P" first="Peter N." last="Ray">Peter N. Ray</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Departments of Genetics and Pediatric Laboratory Medicine, Hospital for Sick Children</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>7 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Toronto, Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Farrer, Lindsay A" sort="Farrer, Lindsay A" uniqKey="Farrer L" first="Lindsay A." last="Farrer">Lindsay A. Farrer</name><affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Boston University, School of Medicine</s1><s2>Boston, Massachusetts</s2><s3>USA</s3><sZ>6 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="St George Hyslop, Peter" sort="St George Hyslop, Peter" uniqKey="St George Hyslop P" first="Peter" last="St George-Hyslop">Peter St George-Hyslop</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Medicine, Division of Neurology, University Health Network</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>9 aut.</sZ></inist:fA14><country>Canada</country><wicri:noRegion>Toronto, Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Centre for Research in Neurodegenerative Diseases, University of Toronto</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation><affiliation wicri:level="4"><inist:fA14 i1="06"><s1>Department of Medicine, Division of Neurology, University of Toronto</s1><s2>Toronto, Ontario</s2><s3>CAN</s3><sZ>10 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName><orgName type="university">Université de Toronto</orgName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2004">2004</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Gaucher disease</term><term>Lipids</term><term>Nervous system diseases</term><term>Parkinson disease</term><term>Risk factor</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term><term>Facteur risque</term><term>Parkinson maladie</term><term>Sphingolipidose héréditaire Gaucher</term><term>Lipide</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Parkinson's disease (PD) is a common progressive neurodegenerative disorder characterized clinically by a combination of motor symptoms. Identifying novel PD genetic risk factors is important for understanding its pathogenesis. A recent study suggested that up to 21% of subjects with PD may have mutations in the glucocerebrosidase (GBA) gene. We investigated the GBA gene for mutations in 88 PD cases and 122 normal controls and detected the presence of heterozygous GBA mutations in 5 PD cases and in 1 control. Sequencing of the entire open reading frame of the GBA gene in a subset of 25 cases with early-onset PD (<50 years of age) uncovered no additional mutations. Our results demonstrate a marginally significant association of GBA mutations with PD and suggest that variations in the GBA gene may constitute a rare susceptibility factor for PD (P = 0.048).</div></front></TEI><affiliations><list><country><li>Canada</li><li>États-Unis</li></country><region><li>Massachusetts</li><li>Ontario</li></region><settlement><li>Toronto</li></settlement><orgName><li>Université de Toronto</li></orgName></list><tree><country name="Canada"><region name="Ontario"><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name></region><name sortKey="Kawarai, Toshitaka" sort="Kawarai, Toshitaka" uniqKey="Kawarai T" first="Toshitaka" last="Kawarai">Toshitaka Kawarai</name><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name><name sortKey="Morgan, Angharad" sort="Morgan, Angharad" uniqKey="Morgan A" first="Angharad" last="Morgan">Angharad Morgan</name><name sortKey="Ray, Peter N" sort="Ray, Peter N" uniqKey="Ray P" first="Peter N." last="Ray">Peter N. Ray</name><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name><name sortKey="Salehi Rad, Shabnam" sort="Salehi Rad, Shabnam" uniqKey="Salehi Rad S" first="Shabnam" last="Salehi-Rad">Shabnam Salehi-Rad</name><name sortKey="St George Hyslop, Peter" sort="St George Hyslop, Peter" uniqKey="St George Hyslop P" first="Peter" last="St George-Hyslop">Peter St George-Hyslop</name><name sortKey="St George Hyslop, Peter" sort="St George Hyslop, Peter" uniqKey="St George Hyslop P" first="Peter" last="St George-Hyslop">Peter St George-Hyslop</name></country><country name="États-Unis"><region name="Massachusetts"><name sortKey="Yan Meng" sort="Yan Meng" uniqKey="Yan Meng" last="Yan Meng">YAN MENG</name></region><name sortKey="Farrer, Lindsay A" sort="Farrer, Lindsay A" uniqKey="Farrer L" first="Lindsay A." last="Farrer">Lindsay A. 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