Genome-wide analysis of the Parkinsonism-dementia complex of Guam
Identifieur interne : 002D28 ( Main/Exploration ); précédent : 002D27; suivant : 002D29Genome-wide analysis of the Parkinsonism-dementia complex of Guam
Auteurs : Huw R. Morris [Royaume-Uni] ; John C. Steele ; Richard Crook [États-Unis] ; Fabienne Wavrant-De Vrieze [États-Unis] ; Luisa Onstead-Cardinale [États-Unis] ; Katrina Gwinn-Hardy [États-Unis] ; Nick W. Wood [Royaume-Uni] ; Matthew Farrer [États-Unis] ; Andrew J. Lees [Royaume-Uni] ; P. L. Mcgeer [Canada] ; Teepu Siddique [États-Unis] ; John Hardy [Royaume-Uni, États-Unis] ; Jordi Perez-Tur [États-Unis, Espagne]Source :
- Archives of neurology : (Chicago) [ 0003-9942 ] ; 2004.
Descripteurs français
- Pascal (Inist)
English descriptors
Abstract
Background: Parkinsonism-dementia complex (PDC) is a neurofibrillary tangle degeneration involving the deposition of Alzheimer-type tau, predominantly in the mesial temporal cortex, brainstem, and basal ganglia. It occurs in focal geographic isolates, including Guam and the Kii peninsula of Japan. The familial clustering of the disease has suggested that a genetic factor could be important in its etiology. Objective: To determine whether a genetic locus could be identified, linked, or associated with PDC. Design and Patients: We performed a genome-wide association study of 22 Guamanian PDC and 19 control subjects using 834 microsatellite markers with an approximate genome-wide marker density of 4.4 centimorgans. Results: Two-point association analysis identified 17 markers (P<.015). Each of these markers then underwent conventional linkage analysis in 5 families with PDC. One marker, D20S103, generated a logarithm of odds score of greater than 1.5. Multipoint association analysis also highlighted 2 other areas on chromosome 14q (adjacent to D14S592, 59.2 megabases [M]) and chromosome 20 (adjacent to D20S470, 17.4 M) with multipoint association logarithm of the odds scores of greater than 2. The areas around D20S103, Dl 45592, and D20S470 were further analyzed by association using additional microsatellite markers and by conventional linkage analysis. This did not provide further evidence for the role of these areas in PDC. Conclusions: This study has not identified a single gene locus for PDC, confirming the impression of geographic disease isolate with a complex genetic, a genetic/ environmental etiology, or a purely environmental etiology.
Affiliations:
- Canada, Espagne, Royaume-Uni, États-Unis
- Angleterre, Grand Londres
- Londres
- University College de Londres
Links toward previous steps (curation, corpus...)
- to stream PascalFrancis, to step Corpus: 000938
- to stream PascalFrancis, to step Curation: 000385
- to stream PascalFrancis, to step Checkpoint: 000876
- to stream Main, to step Merge: 003098
- to stream Main, to step Curation: 002D28
Le document en format XML
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Genome-wide analysis of the Parkinsonism-dementia complex of Guam</title>
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<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Laboratory of Neurogenetics, National Institute on Aging and National Institute for Neurological Disorders and Stroke</s1>
<s2>Bethesda, Md</s2>
<s3>USA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Bethesda, Md</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew J. Lees</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Department of Molecular Pathogenesis and Sara Koe PSP Research Centre, Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, University College London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
<settlement type="city">Londres</settlement>
</placeName>
<orgName type="university">University College de Londres</orgName>
</affiliation>
</author>
<author><name sortKey="Mcgeer, P L" sort="Mcgeer, P L" uniqKey="Mcgeer P" first="P. L." last="Mcgeer">P. L. Mcgeer</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Kinsmen Laboratory of Neurological Research, University of British Columbia</s1>
<s2>Vancouver</s2>
<s3>CAN</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>Vancouver</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Siddique, Teepu" sort="Siddique, Teepu" uniqKey="Siddique T" first="Teepu" last="Siddique">Teepu Siddique</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Neurology, Northwestern University Medical School</s1>
<s2>Chicago, Ill</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Chicago, Ill</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Reta Lila Weston Institute of Neurological Sciences, University College London</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
<settlement type="city">Londres</settlement>
</placeName>
<orgName type="university">University College de Londres</orgName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neuroscience, Mayo Clinic Jacksonville</s1>
<s2>Jacksonville, Fla</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, Fla</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Laboratory of Neurogenetics, National Institute on Aging and National Institute for Neurological Disorders and Stroke</s1>
<s2>Bethesda, Md</s2>
<s3>USA</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Bethesda, Md</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Perez Tur, Jordi" sort="Perez Tur, Jordi" uniqKey="Perez Tur J" first="Jordi" last="Perez-Tur">Jordi Perez-Tur</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neuroscience, Mayo Clinic Jacksonville</s1>
<s2>Jacksonville, Fla</s2>
<s3>USA</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, Fla</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Unitat de Genètica Molecular, Institut de Biomedicina de València-CSIC</s1>
<s2>Valencia</s2>
<s3>ESP</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
<wicri:noRegion>Valencia</wicri:noRegion>
</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="2004">2004</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>Genome</term>
<term>Guam Parkinson dementia</term>
<term>Nervous system diseases</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Génome</term>
<term>Parkinson démence ile de Guam</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Background: Parkinsonism-dementia complex (PDC) is a neurofibrillary tangle degeneration involving the deposition of Alzheimer-type tau, predominantly in the mesial temporal cortex, brainstem, and basal ganglia. It occurs in focal geographic isolates, including Guam and the Kii peninsula of Japan. The familial clustering of the disease has suggested that a genetic factor could be important in its etiology. Objective: To determine whether a genetic locus could be identified, linked, or associated with PDC. Design and Patients: We performed a genome-wide association study of 22 Guamanian PDC and 19 control subjects using 834 microsatellite markers with an approximate genome-wide marker density of 4.4 centimorgans. Results: Two-point association analysis identified 17 markers (P<.015). Each of these markers then underwent conventional linkage analysis in 5 families with PDC. One marker, D20S103, generated a logarithm of odds score of greater than 1.5. Multipoint association analysis also highlighted 2 other areas on chromosome 14q (adjacent to D14S592, 59.2 megabases [M]) and chromosome 20 (adjacent to D20S470, 17.4 M) with multipoint association logarithm of the odds scores of greater than 2. The areas around D20S103, Dl 45592, and D20S470 were further analyzed by association using additional microsatellite markers and by conventional linkage analysis. This did not provide further evidence for the role of these areas in PDC. Conclusions: This study has not identified a single gene locus for PDC, confirming the impression of geographic disease isolate with a complex genetic, a genetic/ environmental etiology, or a purely environmental etiology.</div>
</front>
</TEI>
<affiliations><list><country><li>Canada</li>
<li>Espagne</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Grand Londres</li>
</region>
<settlement><li>Londres</li>
</settlement>
<orgName><li>University College de Londres</li>
</orgName>
</list>
<tree><noCountry><name sortKey="Steele, John C" sort="Steele, John C" uniqKey="Steele J" first="John C." last="Steele">John C. Steele</name>
</noCountry>
<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Morris, Huw R" sort="Morris, Huw R" uniqKey="Morris H" first="Huw R." last="Morris">Huw R. Morris</name>
</region>
<name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew J. Lees</name>
<name sortKey="Morris, Huw R" sort="Morris, Huw R" uniqKey="Morris H" first="Huw R." last="Morris">Huw R. Morris</name>
<name sortKey="Morris, Huw R" sort="Morris, Huw R" uniqKey="Morris H" first="Huw R." last="Morris">Huw R. Morris</name>
<name sortKey="Wood, Nick W" sort="Wood, Nick W" uniqKey="Wood N" first="Nick W." last="Wood">Nick W. Wood</name>
</country>
<country name="États-Unis"><noRegion><name sortKey="Crook, Richard" sort="Crook, Richard" uniqKey="Crook R" first="Richard" last="Crook">Richard Crook</name>
</noRegion>
<name sortKey="Farrer, Matthew" sort="Farrer, Matthew" uniqKey="Farrer M" first="Matthew" last="Farrer">Matthew Farrer</name>
<name sortKey="Gwinn Hardy, Katrina" sort="Gwinn Hardy, Katrina" uniqKey="Gwinn Hardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name>
<name sortKey="Gwinn Hardy, Katrina" sort="Gwinn Hardy, Katrina" uniqKey="Gwinn Hardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name>
<name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<name sortKey="Onstead Cardinale, Luisa" sort="Onstead Cardinale, Luisa" uniqKey="Onstead Cardinale L" first="Luisa" last="Onstead-Cardinale">Luisa Onstead-Cardinale</name>
<name sortKey="Perez Tur, Jordi" sort="Perez Tur, Jordi" uniqKey="Perez Tur J" first="Jordi" last="Perez-Tur">Jordi Perez-Tur</name>
<name sortKey="Siddique, Teepu" sort="Siddique, Teepu" uniqKey="Siddique T" first="Teepu" last="Siddique">Teepu Siddique</name>
<name sortKey="Wavrant De Vrieze, Fabienne" sort="Wavrant De Vrieze, Fabienne" uniqKey="Wavrant De Vrieze F" first="Fabienne" last="Wavrant-De Vrieze">Fabienne Wavrant-De Vrieze</name>
<name sortKey="Wavrant De Vrieze, Fabienne" sort="Wavrant De Vrieze, Fabienne" uniqKey="Wavrant De Vrieze F" first="Fabienne" last="Wavrant-De Vrieze">Fabienne Wavrant-De Vrieze</name>
</country>
<country name="Canada"><noRegion><name sortKey="Mcgeer, P L" sort="Mcgeer, P L" uniqKey="Mcgeer P" first="P. L." last="Mcgeer">P. L. Mcgeer</name>
</noRegion>
</country>
<country name="Espagne"><noRegion><name sortKey="Perez Tur, Jordi" sort="Perez Tur, Jordi" uniqKey="Perez Tur J" first="Jordi" last="Perez-Tur">Jordi Perez-Tur</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
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