ParkinsonCanadaV1, Main, Exploration, bibRecord, 002D30

Genetic association study of PINK1 coding polymorphisms in Parkinson's disease

Identifieur interne : 002D30 ( Main/Exploration ); précédent : 002D29; suivant : 002D31

Genetic association study of PINK1 coding polymorphisms in Parkinson's disease

Auteurs : Justus L. Groen [Canada] ; Toshitaka Kawarai [Canada] ; Anna Toulina [Canada] ; Chiara Rivoiro [Canada, Italie] ; Shabnam Salehi-Rad [Canada] ; Christine Sato [Canada] ; Angharad Morgan [Canada] ; YAN LIANG [Canada] ; Ronald B. Postuma [Canada] ; Peter St George-Hyslop [Canada] ; Anthony E. Lang [Canada] ; Ekaterina Rogaeva [Canada]

Source :

Neuroscience letters [ 0304-3940 ] ; 2004.

RBID : Pascal:05-0015432

Descripteurs français

Pascal (Inist)
- Polymorphisme, Sensibilité, Parkinson maladie.
Wicri :
- geographic : Canada.

English descriptors

KwdEn :
- Adult, Age of Onset, Aged, Aged, 80 and over, Alleles, Canada (epidemiology), Case-Control Studies, DNA (genetics), Exons (genetics), Female, Gene Frequency, Genetic Linkage (genetics), Genotype, Humans, Male, Middle Aged, Parkinson Disease (epidemiology), Parkinson Disease (genetics), Parkinson disease, Polymorphism, Polymorphism, Single Nucleotide (genetics), Protein Kinases (genetics), Reverse Transcriptase Polymerase Chain Reaction, Sensitivity.
MESH :
- chemical , genetics : DNA, Protein Kinases.
- geographic , epidemiology : Canada.
- epidemiology : Parkinson Disease.
- genetics : Exons, Genetic Linkage, Parkinson Disease, Polymorphism, Single Nucleotide.
- Adult, Age of Onset, Aged, Aged, 80 and over, Alleles, Case-Control Studies, Female, Gene Frequency, Genotype, Humans, Male, Middle Aged, Reverse Transcriptase Polymerase Chain Reaction.

Abstract

Parkinson's disease (PD) is the most common neurodegenerative movement disorder with a substantial genetic component (which is more pronounced in earlier onset cases). In addition to three well-confirmed PD genes (SNCA, parkin and DJ-1), mutations in the PTEN Induced Kinase (PINK1) gene have recently been identified in families with recessive early onset PD. We tested the hypothesis that three common coding variations (Leu63Leu. Ala340Thr and Asn521Thr) could increase the risk of PD. We performed a case control association study in a series of 91 PD cases (Caucasian of Canadian origin) and 182 normal controls. The patients were largely pre-selected for having an early age of onset (<50 years) and/or a positive family history. Our results did not reveal any evidence of association between PD and any of the three SNPs at the allelic or genotypic levels (p>0.25). Furthermore, we did not detect a modifying effect for any genotype upon the age of onset in the PD group (p>0.19). Nevertheless, it remains to be evaluated whether PINK1 variations contribute to the risk of common late onset sporadic PD.

Affiliations:

Le document en format XML

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<author><name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name>
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<author><name sortKey="Morgan, Angharad" sort="Morgan, Angharad" uniqKey="Morgan A" first="Angharad" last="Morgan">Angharad Morgan</name>
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</author>
<author><name sortKey="Yan Liang" sort="Yan Liang" uniqKey="Yan Liang" last="Yan Liang">YAN LIANG</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Centre for Research in Neurodegenerative Discuses, Department of Medicine, University of Toronto, 6 Queen's Park Crescent West</s1>
<s2>Toronto, Ont., M5S 3H2</s2>
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<country>Canada</country>
<wicri:noRegion>Toronto, Ont., M5S 3H2</wicri:noRegion>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
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<author><name sortKey="Postuma, Ronald B" sort="Postuma, Ronald B" uniqKey="Postuma R" first="Ronald B." last="Postuma">Ronald B. Postuma</name>
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<country>Canada</country>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
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<orgName type="university">Université de Toronto</orgName>
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<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 Discuses, Department of Medicine, University of Toronto, 6 Queen's Park Crescent West</s1>
<s2>Toronto, Ont., M5S 3H2</s2>
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<region type="state">Ontario</region>
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<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Medicine, Division of Neurology, University Health Network</s1>
<s2>Toronto, Ont.</s2>
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<country>Canada</country>
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<author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
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<s2>Toronto, Ont.</s2>
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<country>Canada</country>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
<orgName type="university">Université de Toronto</orgName>
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<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Medicine, Division of Neurology, University Health Network</s1>
<s2>Toronto, Ont.</s2>
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<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 Discuses, Department of Medicine, University of Toronto, 6 Queen's Park Crescent West</s1>
<s2>Toronto, Ont., M5S 3H2</s2>
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<wicri:noRegion>Toronto, Ont., M5S 3H2</wicri:noRegion>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="05"><s1>Department of Medicine, Division of Neurology, University of Toronto</s1>
<s2>Toronto, Ont.</s2>
<s3>CAN</s3>
<sZ>12 aut.</sZ>
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<country>Canada</country>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
<orgName type="university">Université de Toronto</orgName>
</affiliation>
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</analytic>
<series><title level="j" type="main">Neuroscience letters</title>
<title level="j" type="abbreviated">Neurosci. lett.</title>
<idno type="ISSN">0304-3940</idno>
<imprint><date when="2004">2004</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Neuroscience letters</title>
<title level="j" type="abbreviated">Neurosci. lett.</title>
<idno type="ISSN">0304-3940</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Age of Onset</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Alleles</term>
<term>Canada (epidemiology)</term>
<term>Case-Control Studies</term>
<term>DNA (genetics)</term>
<term>Exons (genetics)</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genetic Linkage (genetics)</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Parkinson Disease (epidemiology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson disease</term>
<term>Polymorphism</term>
<term>Polymorphism, Single Nucleotide (genetics)</term>
<term>Protein Kinases (genetics)</term>
<term>Reverse Transcriptase Polymerase Chain Reaction</term>
<term>Sensitivity</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA</term>
<term>Protein Kinases</term>
</keywords>
<keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Canada</term>
</keywords>
<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term>
<term>Genetic Linkage</term>
<term>Parkinson Disease</term>
<term>Polymorphism, Single Nucleotide</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Age of Onset</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Alleles</term>
<term>Case-Control Studies</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Reverse Transcriptase Polymerase Chain Reaction</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Polymorphisme</term>
<term>Sensibilité</term>
<term>Parkinson maladie</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Canada</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Parkinson's disease (PD) is the most common neurodegenerative movement disorder with a substantial genetic component (which is more pronounced in earlier onset cases). In addition to three well-confirmed PD genes (SNCA, parkin and DJ-1), mutations in the PTEN Induced Kinase (PINK1) gene have recently been identified in families with recessive early onset PD. We tested the hypothesis that three common coding variations (Leu63Leu. Ala340Thr and Asn521Thr) could increase the risk of PD. We performed a case control association study in a series of 91 PD cases (Caucasian of Canadian origin) and 182 normal controls. The patients were largely pre-selected for having an early age of onset (<50 years) and/or a positive family history. Our results did not reveal any evidence of association between PD and any of the three SNPs at the allelic or genotypic levels (p>0.25). Furthermore, we did not detect a modifying effect for any genotype upon the age of onset in the PD group (p>0.19). Nevertheless, it remains to be evaluated whether PINK1 variations contribute to the risk of common late onset sporadic PD.</div>
</front>
</TEI>
<affiliations><list><country><li>Canada</li>
<li>Italie</li>
</country>
<region><li>Ontario</li>
<li>Piémont</li>
</region>
<settlement><li>Toronto</li>
<li>Turin</li>
</settlement>
<orgName><li>Université de Toronto</li>
</orgName>
</list>
<tree><country name="Canada"><region name="Ontario"><name sortKey="Groen, Justus L" sort="Groen, Justus L" uniqKey="Groen J" first="Justus L." last="Groen">Justus L. Groen</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="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="Postuma, Ronald B" sort="Postuma, Ronald B" uniqKey="Postuma R" first="Ronald B." last="Postuma">Ronald B. Postuma</name>
<name sortKey="Rivoiro, Chiara" sort="Rivoiro, Chiara" uniqKey="Rivoiro C" first="Chiara" last="Rivoiro">Chiara Rivoiro</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="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</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>
<name sortKey="Toulina, Anna" sort="Toulina, Anna" uniqKey="Toulina A" first="Anna" last="Toulina">Anna Toulina</name>
<name sortKey="Yan Liang" sort="Yan Liang" uniqKey="Yan Liang" last="Yan Liang">YAN LIANG</name>
</country>
<country name="Italie"><region name="Piémont"><name sortKey="Rivoiro, Chiara" sort="Rivoiro, Chiara" uniqKey="Rivoiro C" first="Chiara" last="Rivoiro">Chiara Rivoiro</name>
</region>
</country>
</tree>
</affiliations>
</record>

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La maladie de Parkinson au Canada (serveur d'exploration)

Genetic association study of PINK1 coding polymorphisms in Parkinson's disease

Genetic association study of PINK1 coding polymorphisms in Parkinson's disease

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	La maladie de Parkinson au Canada (serveur d'exploration)
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