Alpha-Synuclein and Familial Parkinson’s Disease
Identifieur interne : 000186 ( Pmc/Curation ); précédent : 000185; suivant : 000187Alpha-Synuclein and Familial Parkinson’s Disease
Auteurs : Nathan Pankratz [États-Unis] ; William C. Nichols [États-Unis] ; Veronika E. Elsaesser [États-Unis] ; Michael W. Pauciulo [États-Unis] ; Diane K. Marek [États-Unis] ; Cheryl A. Halter [États-Unis] ; Joanne Wojcieszek [États-Unis] ; Alice Rudolph [États-Unis] ; Ronald F. Pfeiffer [États-Unis] ; Tatiana Foroud [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2009.
Abstract
Whole gene duplications and triplications of
Url:
DOI: 10.1002/mds.22524
PubMed: 19412953
PubMed Central: 3397145
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<author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name>
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<affiliation wicri:level="1"><nlm:aff id="A1">Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA</nlm:aff>
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<wicri:regionArea>Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana</wicri:regionArea>
</affiliation>
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<author><name sortKey="Nichols, William C" sort="Nichols, William C" uniqKey="Nichols W" first="William C." last="Nichols">William C. Nichols</name>
<affiliation wicri:level="1"><nlm:aff id="A2">Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio</wicri:regionArea>
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<affiliation wicri:level="1"><nlm:aff id="A3">Department of Pediatrics, University of Cincinnati School of Medicine, Cincinnati, Ohio, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Cincinnati School of Medicine, Cincinnati, Ohio</wicri:regionArea>
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<author><name sortKey="Elsaesser, Veronika E" sort="Elsaesser, Veronika E" uniqKey="Elsaesser V" first="Veronika E." last="Elsaesser">Veronika E. Elsaesser</name>
<affiliation wicri:level="1"><nlm:aff id="A2">Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio</wicri:regionArea>
</affiliation>
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<author><name sortKey="Pauciulo, Michael W" sort="Pauciulo, Michael W" uniqKey="Pauciulo M" first="Michael W." last="Pauciulo">Michael W. Pauciulo</name>
<affiliation wicri:level="1"><nlm:aff id="A2">Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio</wicri:regionArea>
</affiliation>
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<author><name sortKey="Marek, Diane K" sort="Marek, Diane K" uniqKey="Marek D" first="Diane K." last="Marek">Diane K. Marek</name>
<affiliation wicri:level="1"><nlm:aff id="A2">Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Halter, Cheryl A" sort="Halter, Cheryl A" uniqKey="Halter C" first="Cheryl A." last="Halter">Cheryl A. Halter</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana</wicri:regionArea>
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<author><name sortKey="Wojcieszek, Joanne" sort="Wojcieszek, Joanne" uniqKey="Wojcieszek J" first="Joanne" last="Wojcieszek">Joanne Wojcieszek</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana</wicri:regionArea>
</affiliation>
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<author><name sortKey="Rudolph, Alice" sort="Rudolph, Alice" uniqKey="Rudolph A" first="Alice" last="Rudolph">Alice Rudolph</name>
<affiliation wicri:level="1"><nlm:aff id="A4">Department of Neurology, University of Rochester, Rochester, Rochester, New York, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Rochester, Rochester, Rochester, New York</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Pfeiffer, Ronald F" sort="Pfeiffer, Ronald F" uniqKey="Pfeiffer R" first="Ronald F." last="Pfeiffer">Ronald F. Pfeiffer</name>
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<country xml:lang="fr">États-Unis</country>
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<author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana</wicri:regionArea>
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<series><title level="j">Movement Disorders</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2009">2009</date>
</imprint>
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<front><div type="abstract" xml:lang="en"><p id="P1">Whole gene duplications and triplications of <italic>alpha-synuclein</italic>
(<italic>SNCA</italic>
) can cause Parkinson’s disease (PD), and variation in the promoter region (Rep1) and 3′ region of <italic>SNCA</italic>
has been reported to increase disease susceptibility. Within our cohort, one affected individual from each of 92 multiplex PD families showing the greatest evidence of linkage to the region around <italic>SNCA</italic>
was screened for dosage alterations and sequence changes; no dosage or non-synonymous sequence changes were found. In addition, 737 individuals (from 450 multiplex PD families) that met strict diagnostic criteria for PD and did not harbor a known causative mutation, as well as 359 neurologically normal controls, were genotyped for the Rep1 polymorphism and four SNPs in the 3′ region of <italic>SNCA</italic>
. The four SNPs were in high LD (r<sup>2</sup>
> 0.95) and were analyzed as a haplotype. The effects of the Rep1 genotype and the 3′ haplotype were evaluated using regression models employing only one individual per family. Cases had a 3% higher frequency of the Rep1 263 bp allele compared with controls (OR = 1.54; empirical <italic>P</italic>
-value = 0.02). There was an inverse linear relationship between the number of 263 bp alleles and age of onset (empirical <italic>P</italic>
-value = 0.0004). The 3′ haplotype was also associated with disease (OR = 1.29; empirical <italic>P</italic>
-value = 0.01), but not age of onset (<italic>P</italic>
= 0.40). These data suggest that dosage and sequence changes are a rare cause of PD, but variation in the promoter and 3′ region of <italic>SNCA</italic>
convey an increased risk for PD.</p>
</div>
</front>
</TEI>
<pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">8610688</journal-id>
<journal-id journal-id-type="pubmed-jr-id">5937</journal-id>
<journal-id journal-id-type="nlm-ta">Mov Disord</journal-id>
<journal-id journal-id-type="iso-abbrev">Mov. Disord.</journal-id>
<journal-title-group><journal-title>Movement Disorders</journal-title>
</journal-title-group>
<issn pub-type="ppub">0885-3185</issn>
<issn pub-type="epub">1531-8257</issn>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">19412953</article-id>
<article-id pub-id-type="pmc">3397145</article-id>
<article-id pub-id-type="doi">10.1002/mds.22524</article-id>
<article-id pub-id-type="manuscript">NIHMS386975</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Alpha-Synuclein and Familial Parkinson’s Disease</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Pankratz</surname>
<given-names>Nathan</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A1">1</xref>
<xref rid="FN1" ref-type="author-notes">*</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Nichols</surname>
<given-names>William C.</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A2">2</xref>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Elsaesser</surname>
<given-names>Veronika E.</given-names>
</name>
<degrees>BS</degrees>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Pauciulo</surname>
<given-names>Michael W.</given-names>
</name>
<degrees>MBA</degrees>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Marek</surname>
<given-names>Diane K.</given-names>
</name>
<degrees>BS</degrees>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Halter</surname>
<given-names>Cheryl A.</given-names>
</name>
<degrees>MS</degrees>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Wojcieszek</surname>
<given-names>Joanne</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Rudolph</surname>
<given-names>Alice</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Pfeiffer</surname>
<given-names>Ronald F.</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Foroud</surname>
<given-names>Tatiana</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<on-behalf-of>for the Parkinson Study Group – PROGENI Investigators</on-behalf-of>
</contrib-group>
<aff id="A1"><label>1</label>
Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA</aff>
<aff id="A2"><label>2</label>
Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA</aff>
<aff id="A3"><label>3</label>
Department of Pediatrics, University of Cincinnati School of Medicine, Cincinnati, Ohio, USA</aff>
<aff id="A4"><label>4</label>
Department of Neurology, University of Rochester, Rochester, Rochester, New York, USA</aff>
<aff id="A5"><label>5</label>
Department of Neurology, University of Tennessee Health Science Center, Memphis, Tennessee, USA</aff>
<author-notes><corresp id="FN1"><label>*</label>
Correspondence to: Dr. Nathan Pankratz, Medical and Molecular Genetics, Indiana University, School of Medicine, Hereditary Genomics Division, 410 West 10th Street, MI-4000 Indianapolis, IN 46202, USA. <email>npankrat@iupui.edu</email>
</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>27</day>
<month>6</month>
<year>2012</year>
</pub-date>
<pub-date pub-type="ppub"><day>15</day>
<month>6</month>
<year>2009</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>14</day>
<month>7</month>
<year>2012</year>
</pub-date>
<volume>24</volume>
<issue>8</issue>
<fpage>1125</fpage>
<lpage>1131</lpage>
<permissions><copyright-statement>© 2009 Movement Disorder Society</copyright-statement>
<copyright-year>2009</copyright-year>
</permissions>
<abstract><p id="P1">Whole gene duplications and triplications of <italic>alpha-synuclein</italic>
(<italic>SNCA</italic>
) can cause Parkinson’s disease (PD), and variation in the promoter region (Rep1) and 3′ region of <italic>SNCA</italic>
has been reported to increase disease susceptibility. Within our cohort, one affected individual from each of 92 multiplex PD families showing the greatest evidence of linkage to the region around <italic>SNCA</italic>
was screened for dosage alterations and sequence changes; no dosage or non-synonymous sequence changes were found. In addition, 737 individuals (from 450 multiplex PD families) that met strict diagnostic criteria for PD and did not harbor a known causative mutation, as well as 359 neurologically normal controls, were genotyped for the Rep1 polymorphism and four SNPs in the 3′ region of <italic>SNCA</italic>
. The four SNPs were in high LD (r<sup>2</sup>
> 0.95) and were analyzed as a haplotype. The effects of the Rep1 genotype and the 3′ haplotype were evaluated using regression models employing only one individual per family. Cases had a 3% higher frequency of the Rep1 263 bp allele compared with controls (OR = 1.54; empirical <italic>P</italic>
-value = 0.02). There was an inverse linear relationship between the number of 263 bp alleles and age of onset (empirical <italic>P</italic>
-value = 0.0004). The 3′ haplotype was also associated with disease (OR = 1.29; empirical <italic>P</italic>
-value = 0.01), but not age of onset (<italic>P</italic>
= 0.40). These data suggest that dosage and sequence changes are a rare cause of PD, but variation in the promoter and 3′ region of <italic>SNCA</italic>
convey an increased risk for PD.</p>
</abstract>
<kwd-group><kwd>Parkinson’s disease</kwd>
<kwd>alpha-synuclein</kwd>
<kwd>dosage</kwd>
<kwd>Rep1</kwd>
<kwd>association</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
</record>
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