A Genome-wide Scan in an Amish Pedigree with Parkinsonism
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Auteurs : S Lee [États-Unis] ; D Murdock [États-Unis] ; J Mccauley [États-Unis] ; Y Bradford [États-Unis] ; A Crunk [États-Unis] ; L Mcfarland [États-Unis] ; L Jiang [États-Unis] ; T Wang [États-Unis] ; N Schnetz [États-Unis] ; J Haines [États-Unis]Source :
- Annals of human genetics [ 0003-4800 ] ; 2008.
Abstract
The identification of familial Parkinson Disease (PD) genes is yielding important molecular pathogenetic insights. In an effort to identify additional PD genes, we studied an eight generation Amish pedigree with apparent autosomal dominant parkinsonism with incomplete penetrance. Phenotypic variability ranged from idiopathic PD to progressive supranuclear palsy (PSP), with the average age at onset 53 years (range of 39 to 74 years). We identified markers on chromosome 3 and 7 that were significant at a genome-wide level by parametric and nonparametric criteria, lod > 3 and non-parametric P-value <0.10, respectively. We also identified markers on chromosomes 10 and 22 with lod > 3. These data suggest that parkinsonism in this pedigree is genetically complex, with contributions from several loci.
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DOI: 10.1111/j.1469-1809.2008.00452.x
PubMed: 18505419
PubMed Central: 2764120
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Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Tennessee</region></placeName><wicri:cityArea>The Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville</wicri:cityArea></affiliation></author><author><name sortKey="Haines, J L" sort="Haines, J L" uniqKey="Haines J" first="J" last="Haines">J Haines</name><affiliation wicri:level="2"><nlm:aff id="A2">The Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Tennessee</region></placeName><wicri:cityArea>The Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville</wicri:cityArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">18505419</idno><idno type="pmc">2764120</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2764120</idno><idno type="RBID">PMC:2764120</idno><idno type="doi">10.1111/j.1469-1809.2008.00452.x</idno><date when="2008">2008</date><idno type="wicri:Area/Pmc/Corpus">000155</idno><idno type="wicri:Area/Pmc/Curation">000155</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A Genome-wide Scan in an Amish Pedigree with Parkinsonism</title><author><name sortKey="Lee, S L" sort="Lee, S L" uniqKey="Lee S" first="S" last="Lee">S Lee</name><affiliation wicri:level="2"><nlm:aff id="A1">Section of Neurology, Dartmouth Medical School, Lebanon, New Hampshire</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">New Hampshire</region></placeName><wicri:cityArea>Section of Neurology, Dartmouth Medical School, Lebanon</wicri:cityArea></affiliation></author><author><name sortKey="Murdock, D G" sort="Murdock, D G" uniqKey="Murdock D" first="D" last="Murdock">D Murdock</name><affiliation wicri:level="2"><nlm:aff id="A2">The Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Tennessee</region></placeName><wicri:cityArea>The Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville</wicri:cityArea></affiliation></author><author><name sortKey="Mccauley, J L" sort="Mccauley, J L" uniqKey="Mccauley J" first="J" last="Mccauley">J Mccauley</name><affiliation wicri:level="2"><nlm:aff id="A2">The Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Tennessee</region></placeName><wicri:cityArea>The Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville</wicri:cityArea></affiliation></author><author><name sortKey="Bradford, Y" sort="Bradford, Y" uniqKey="Bradford Y" first="Y" last="Bradford">Y Bradford</name><affiliation wicri:level="2"><nlm:aff id="A2">The Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Tennessee</region></placeName><wicri:cityArea>The Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville</wicri:cityArea></affiliation></author><author><name sortKey="Crunk, A" sort="Crunk, A" uniqKey="Crunk A" first="A" last="Crunk">A Crunk</name><affiliation wicri:level="2"><nlm:aff id="A2">The Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Tennessee</region></placeName><wicri:cityArea>The Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville</wicri:cityArea></affiliation></author><author><name sortKey="Mcfarland, L" sort="Mcfarland, L" uniqKey="Mcfarland L" first="L" last="Mcfarland">L Mcfarland</name><affiliation wicri:level="2"><nlm:aff id="A2">The Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Tennessee</region></placeName><wicri:cityArea>The Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville</wicri:cityArea></affiliation></author><author><name sortKey="Jiang, L" sort="Jiang, L" uniqKey="Jiang L" first="L" last="Jiang">L Jiang</name><affiliation wicri:level="2"><nlm:aff id="A2">The Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Tennessee</region></placeName><wicri:cityArea>The Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville</wicri:cityArea></affiliation></author><author><name sortKey="Wang, T" sort="Wang, T" uniqKey="Wang T" first="T" last="Wang">T Wang</name><affiliation wicri:level="2"><nlm:aff id="A1">Section of Neurology, Dartmouth Medical School, Lebanon, New Hampshire</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">New Hampshire</region></placeName><wicri:cityArea>Section of Neurology, Dartmouth Medical School, Lebanon</wicri:cityArea></affiliation></author><author><name sortKey="Schnetz Boutaud, N" sort="Schnetz Boutaud, N" uniqKey="Schnetz Boutaud N" first="N" last="Schnetz">N Schnetz</name><affiliation wicri:level="2"><nlm:aff id="A2">The Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Tennessee</region></placeName><wicri:cityArea>The Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville</wicri:cityArea></affiliation></author><author><name sortKey="Haines, J L" sort="Haines, J L" uniqKey="Haines J" first="J" last="Haines">J Haines</name><affiliation wicri:level="2"><nlm:aff id="A2">The Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Tennessee</region></placeName><wicri:cityArea>The Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville</wicri:cityArea></affiliation></author></analytic><series><title level="j">Annals of human genetics</title><idno type="ISSN">0003-4800</idno><idno type="e-ISSN">1469-1809</idno><imprint><date when="2008">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><title>Summary</title><p id="P2">The identification of familial Parkinson Disease (PD) genes is yielding important molecular pathogenetic insights. In an effort to identify additional PD genes, we studied an eight generation Amish pedigree with apparent autosomal dominant parkinsonism with incomplete penetrance. Phenotypic variability ranged from idiopathic PD to progressive supranuclear palsy (PSP), with the average age at onset 53 years (range of 39 to 74 years). We identified markers on chromosome 3 and 7 that were significant at a genome-wide level by parametric and nonparametric criteria, lod > 3 and non-parametric P-value <0.10, respectively. We also identified markers on chromosomes 10 and 22 with lod > 3. These data suggest that parkinsonism in this pedigree is genetically complex, with contributions from several loci.</p></div></front></TEI><pmc article-type="research-article" xml:lang="EN"><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">0416661</journal-id><journal-id journal-id-type="pubmed-jr-id">585</journal-id><journal-id journal-id-type="nlm-ta">Ann Hum Genet</journal-id><journal-title>Annals of human genetics</journal-title><issn pub-type="ppub">0003-4800</issn><issn pub-type="epub">1469-1809</issn></journal-meta><article-meta><article-id pub-id-type="pmid">18505419</article-id><article-id pub-id-type="pmc">2764120</article-id><article-id pub-id-type="doi">10.1111/j.1469-1809.2008.00452.x</article-id><article-id pub-id-type="manuscript">NIHMS101909</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>A Genome-wide Scan in an Amish Pedigree with Parkinsonism</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>LEE</surname><given-names>S. L.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>MURDOCK</surname><given-names>D. G.</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>MCCAULEY</surname><given-names>J. L.</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>BRADFORD</surname><given-names>Y.</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>CRUNK</surname><given-names>A.</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>MCFARLAND</surname><given-names>L.</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>JIANG</surname><given-names>L.</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>WANG</surname><given-names>T.</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>SCHNETZ-BOUTAUD</surname><given-names>N.</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>HAINES</surname><given-names>J. L.</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib></contrib-group><aff id="A1"><label>1</label>Section of Neurology, Dartmouth Medical School, Lebanon, New Hampshire</aff><aff id="A2"><label>2</label>The Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee</aff><author-notes><corresp id="CR1">Direct correspondence to: Jonathan L. Haines, Ph.D. Department of Molecular Physiology and Biophysics Center for Human Genetics Research 519 Light Hall Vanderbilt University Medical Center Nashville, TN 37232 Telephone: (615) 343-5851 Facsimile: (615) 343-8619 E-mail: <email>jonathan@chgr.mc.vanderbilt.edu</email></corresp><fn id="FN1"><p id="P1"><bold>Author Contributions</bold> Stephen Lee co-developed the project, conducted the ascertainment and genomic screen, and wrote the manuscript. Jacob McCauley and Deborah Murdock contributed to the analysis of the pedigree and microsatellite marker data. Yuki Bradford performed the genomic screen data analysis. Amy Crunk performed the ascertainment and maintained the pedigree data. Lynne McFarland assisted in the ascertainment. Lan Jiang performed data analysis. Tao Wang conducted the sequencing analysis. Nathalie Schnetz-Boutaud assisted in conducting the genomic screen. Jonathan Haines co-developed the project and provided overall guidance.</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>17</day><month>3</month><year>2009</year></pub-date><pub-date pub-type="epub"><day>21</day><month>5</month><year>2008</year></pub-date><pub-date pub-type="ppub"><month>9</month><year>2008</year></pub-date><pub-date pub-type="pmc-release"><day>20</day><month>10</month><year>2009</year></pub-date><volume>72</volume><issue>Pt 5</issue><fpage>621</fpage><lpage>629</lpage><abstract><title>Summary</title><p id="P2">The identification of familial Parkinson Disease (PD) genes is yielding important molecular pathogenetic insights. In an effort to identify additional PD genes, we studied an eight generation Amish pedigree with apparent autosomal dominant parkinsonism with incomplete penetrance. Phenotypic variability ranged from idiopathic PD to progressive supranuclear palsy (PSP), with the average age at onset 53 years (range of 39 to 74 years). We identified markers on chromosome 3 and 7 that were significant at a genome-wide level by parametric and nonparametric criteria, lod > 3 and non-parametric P-value <0.10, respectively. We also identified markers on chromosomes 10 and 22 with lod > 3. These data suggest that parkinsonism in this pedigree is genetically complex, with contributions from several loci.</p></abstract><kwd-group><kwd>Parkinson’s disease</kwd><kwd>progressive supranuclear palsy</kwd><kwd>parkinsonism</kwd><kwd>genetic linkage</kwd><kwd>Amish</kwd><kwd>population isolate</kwd></kwd-group><contract-num rid="AG1">R01 AG019085-07</contract-num><contract-num rid="AG1">R01 AG019085-06A1</contract-num><contract-sponsor id="AG1">National Institute on Aging : NIA</contract-sponsor></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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