ParkinsonCanadaV1, Main, Exploration, bibRecord, 001D41

Association of α-, (β-, and γ-Synuclein With Diffuse Lewy Body Disease

Identifieur interne : 001D41 ( Main/Exploration ); précédent : 001D40; suivant : 001D42

Association of α-, (β-, and γ-Synuclein With Diffuse Lewy Body Disease

Auteurs : Kenya Nishioka [États-Unis] ; Christian Wider [États-Unis] ; Carles Vilarino-Güell [États-Unis] ; Alexandra I. Soto-Ortolaza [États-Unis] ; Sarah J. Lincoln [États-Unis] ; Jennifer M. Kachergus [États-Unis] ; Barbara Jasinska-Myga [États-Unis, Pologne] ; Owen A. Ross [États-Unis] ; Alex Rajput [Canada] ; Christopher A. Robinson [Canada] ; Tanis J. Ferman [États-Unis] ; Zbigniew K. Wszolek [États-Unis] ; Dennis W. Dickson [États-Unis] ; Matthew J. Farrer [États-Unis]

Source :

Archives of neurology : (Chicago) [ 0003-9942 ] ; 2010.

RBID : Pascal:10-0395127

Descripteurs français

Pascal (Inist)
- Démence à corps de Lewy, Pathologie du système nerveux, Corps Lewy maladie.

English descriptors

KwdEn :
- Lewy body dementia, Lewy body disease, Nervous system diseases.

Abstract

Objective: To determine the association of the genes that encode α-, β-, and γ-synuclein (SNCA, SNCB, and SNCG, respectively) with diffuse Lewy body disease (DLBD). Design: Case-control study. Subjects: A total of 172 patients with DLBD consistent with a clinical diagnosis of Parkinson disease dementia/ dementia with Lewy bodies and 350 clinically and 97 pathologically normal controls. Interventions: Sequencing of SNCA, SNCB, and SNCG and genotyping of single-nucleotide polymorphisms performed on an Applied Biosystems capillary sequencer and a Sequenom MassArray pLEX platform, respectively. Associations were determined using χ² or Fisher exact tests. Results: Initial sequencing studies of the coding regions of each gene in 89 patients with DLBD did not detect any pathogenic substitutions. Nevertheless, genotyping of known polymorphic variability in sequence-conserved regions detected several single-nucleotide polymorphisms in the SNCA and SNCG genes that were significantly associated with disease (P=.05 to <.001). Significant association was also observed for 3 single-nucleotide polymorphisms located in SNCB when comparing DLBD cases and pathologically confirmed normal controls (P=.03∼.O1); however, this association was not significant for the clinical controls alone or the combined clinical and pathological controls (P > .05). After correction for multiple testing, only 1 single-nucleotide polymorphism in SNCG (rs3750823) remained significant in all of the analyses (P=.05-.009). Conclusion: These findings suggest that variants in all 3 members of the synuclein gene family, particularly SNCA and SNCG, affect the risk of developing DLBD and warrant further investigation in larger, pathologically defined data sets as well as clinically diagnosed Parkinson disease/dementia with Lewy bodies case-control series.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4727539

Affiliations:

Canada, Pologne, États-Unis
Floride

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Association of α-, (β-, and γ-Synuclein With Diffuse Lewy Body Disease</title>
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<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Division of Neurology, Royal University Hospital, University of Saskatchewan</s1>
<s2>Saskatoon, Saskatchewan</s2>
<s3>CAN</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>Saskatoon, Saskatchewan</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Robinson, Christopher A" sort="Robinson, Christopher A" uniqKey="Robinson C" first="Christopher A." last="Robinson">Christopher A. Robinson</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Division of Neurology, Royal University Hospital, University of Saskatchewan</s1>
<s2>Saskatoon, Saskatchewan</s2>
<s3>CAN</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>Saskatoon, Saskatchewan</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ferman, Tanis J" sort="Ferman, Tanis J" uniqKey="Ferman T" first="Tanis J." last="Ferman">Tanis J. Ferman</name>
<affiliation wicri:level="2"><inist:fA14 i1="02"><s1>Department of Psychology and Psychiatry, Mayo Clinic</s1>
<s2>Jacksonville, Florida</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
<affiliation wicri:level="2"><inist:fA14 i1="03"><s1>Department of Neurology, Mayo Clinic</s1>
<s2>Jacksonville, Florida</s2>
<s3>USA</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, Florida</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, Florida</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Archives of neurology : (Chicago)</title>
<title level="j" type="abbreviated">Arch. neurol. : (Chic.)</title>
<idno type="ISSN">0003-9942</idno>
<imprint><date when="2010">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Archives of neurology : (Chicago)</title>
<title level="j" type="abbreviated">Arch. neurol. : (Chic.)</title>
<idno type="ISSN">0003-9942</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Lewy body dementia</term>
<term>Lewy body disease</term>
<term>Nervous system diseases</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Démence à corps de Lewy</term>
<term>Pathologie du   système nerveux</term>
<term>Corps Lewy maladie</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Objective: To determine the association of the genes that encode α-, β-, and γ-synuclein (SNCA, SNCB, and SNCG, respectively) with diffuse Lewy body disease (DLBD). Design: Case-control study. Subjects: A total of 172 patients with DLBD consistent with a clinical diagnosis of Parkinson disease dementia/ dementia with Lewy bodies and 350 clinically and 97 pathologically normal controls. Interventions: Sequencing of SNCA, SNCB, and SNCG and genotyping of single-nucleotide polymorphisms performed on an Applied Biosystems capillary sequencer and a Sequenom MassArray pLEX platform, respectively. Associations were determined using χ<sup>2</sup>
 or Fisher exact tests. Results: Initial sequencing studies of the coding regions of each gene in 89 patients with DLBD did not detect any pathogenic substitutions. Nevertheless, genotyping of known polymorphic variability in sequence-conserved regions detected several single-nucleotide polymorphisms in the SNCA and SNCG genes that were significantly associated with disease (P=.05 to <.001). Significant association was also observed for 3 single-nucleotide polymorphisms located in SNCB when comparing DLBD cases and pathologically confirmed normal controls (P=.03∼.O1); however, this association was not significant for the clinical controls alone or the combined clinical and pathological controls (P > .05). After correction for multiple testing, only 1 single-nucleotide polymorphism in SNCG (rs3750823) remained significant in all of the analyses (P=.05-.009). Conclusion: These findings suggest that variants in all 3 members of the synuclein gene family, particularly SNCA and SNCG, affect the risk of developing DLBD and warrant further investigation in larger, pathologically defined data sets as well as clinically diagnosed Parkinson disease/dementia with Lewy bodies case-control series.</div>
</front>
</TEI>
<affiliations><list><country><li>Canada</li>
<li>Pologne</li>
<li>États-Unis</li>
</country>
<region><li>Floride</li>
</region>
</list>
<tree><country name="États-Unis"><region name="Floride"><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name>
</region>
<name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name>
<name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<name sortKey="Ferman, Tanis J" sort="Ferman, Tanis J" uniqKey="Ferman T" first="Tanis J." last="Ferman">Tanis J. Ferman</name>
<name sortKey="Jasinska Myga, Barbara" sort="Jasinska Myga, Barbara" uniqKey="Jasinska Myga B" first="Barbara" last="Jasinska-Myga">Barbara Jasinska-Myga</name>
<name sortKey="Kachergus, Jennifer M" sort="Kachergus, Jennifer M" uniqKey="Kachergus J" first="Jennifer M." last="Kachergus">Jennifer M. Kachergus</name>
<name sortKey="Lincoln, Sarah J" sort="Lincoln, Sarah J" uniqKey="Lincoln S" first="Sarah J." last="Lincoln">Sarah J. Lincoln</name>
<name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
<name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name>
<name sortKey="Vilarino Guell, Carles" sort="Vilarino Guell, Carles" uniqKey="Vilarino Guell C" first="Carles" last="Vilarino-Güell">Carles Vilarino-Güell</name>
<name sortKey="Wider, Christian" sort="Wider, Christian" uniqKey="Wider C" first="Christian" last="Wider">Christian Wider</name>
<name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
</country>
<country name="Pologne"><noRegion><name sortKey="Jasinska Myga, Barbara" sort="Jasinska Myga, Barbara" uniqKey="Jasinska Myga B" first="Barbara" last="Jasinska-Myga">Barbara Jasinska-Myga</name>
</noRegion>
</country>
<country name="Canada"><noRegion><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name>
</noRegion>
<name sortKey="Robinson, Christopher A" sort="Robinson, Christopher A" uniqKey="Robinson C" first="Christopher A." last="Robinson">Christopher A. Robinson</name>
</country>
</tree>
</affiliations>
</record>

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

Association of α-, (β-, and γ-Synuclein With Diffuse Lewy Body Disease

Association of α-, (β-, and γ-Synuclein With Diffuse Lewy Body Disease

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