Genome-wide Screen Identifies rs646776 near Sortilin as a Regulator of Progranulin Levels in Human Plasma
Identifieur interne : 001A42 ( Main/Exploration ); précédent : 001A41; suivant : 001A43Genome-wide Screen Identifies rs646776 near Sortilin as a Regulator of Progranulin Levels in Human Plasma
Auteurs : Minerva M. Carrasquillo [États-Unis] ; Alexandra M. Nicholson [États-Unis] ; Nicole Finch [États-Unis] ; J. Raphael Gibbs [États-Unis, Royaume-Uni] ; Matt Baker [États-Unis] ; Nicola J. Rutherford [États-Unis] ; Talisha A. Hunter [États-Unis] ; Mariely Dejesus-Hernandez [États-Unis] ; Gina D. Bisceglio [États-Unis] ; Ian R. Mackenzie [Canada] ; Andrew Singleton [États-Unis] ; Mark R. Cookson [États-Unis] ; Julia E. Crook [États-Unis] ; Allissa Dillman [États-Unis] ; Dena Hernandez [États-Unis, Royaume-Uni] ; Ronald C. Petersen [États-Unis] ; Neill R. Graff-Radford [États-Unis] ; Steven G. Younkin [États-Unis] ; Rosa Rademakers [États-Unis]Source :
- American Journal of Human Genetics [ 0002-9297 ] ; 2010.
Abstract
Recent studies suggest progranulin (GRN) is a neurotrophic factor. Loss-of-function mutations in the progranulin gene (
Url:
DOI: 10.1016/j.ajhg.2010.11.002
PubMed: 21087763
PubMed Central: 2997361
Affiliations:
Links toward previous steps (curation, corpus...)
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- to stream Pmc, to step Checkpoint: 000A44
- to stream Ncbi, to step Merge: 000D79
- to stream Ncbi, to step Curation: 000D79
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Le document en format XML
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Genome-wide Screen Identifies rs646776 near Sortilin as a Regulator of Progranulin Levels in Human Plasma</title>
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<affiliation wicri:level="1"><nlm:aff id="aff2">Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892</wicri:regionArea>
<wicri:noRegion>MD 20892</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff3">Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, WC1N 3BG London, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, WC1N 3BG London</wicri:regionArea>
<orgName type="university">University College de Londres</orgName>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Petersen, Ronald C" sort="Petersen, Ronald C" uniqKey="Petersen R" first="Ronald C." last="Petersen">Ronald C. Petersen</name>
<affiliation wicri:level="1"><nlm:aff id="aff5">Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN 55905</wicri:regionArea>
<wicri:noRegion>MN 55905</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Graff Radford, Neill R" sort="Graff Radford, Neill R" uniqKey="Graff Radford N" first="Neill R." last="Graff-Radford">Neill R. Graff-Radford</name>
<affiliation wicri:level="1"><nlm:aff id="aff6">Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, FL 32224</wicri:regionArea>
<wicri:noRegion>FL 32224</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Younkin, Steven G" sort="Younkin, Steven G" uniqKey="Younkin S" first="Steven G." last="Younkin">Steven G. Younkin</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224</wicri:regionArea>
<wicri:noRegion>FL 32224</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rademakers, Rosa" sort="Rademakers, Rosa" uniqKey="Rademakers R" first="Rosa" last="Rademakers">Rosa Rademakers</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224</wicri:regionArea>
<wicri:noRegion>FL 32224</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">American Journal of Human Genetics</title>
<idno type="ISSN">0002-9297</idno>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="2010">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Recent studies suggest progranulin (GRN) is a neurotrophic factor. Loss-of-function mutations in the progranulin gene (<italic>GRN</italic>
) cause frontotemporal lobar degeneration (FTLD), a progressive neurodegenerative disease affecting ∼10% of early-onset dementia patients. Using an enzyme-linked immunosorbent assay, we previously showed that GRN is detectable in human plasma and can be used to predict <italic>GRN</italic>
mutation status. This study also showed a wide range in plasma GRN levels in non-<italic>GRN</italic>
mutation carriers, including controls. We have now performed a genome-wide association study of 313,504 single-nucleotide polymorphisms (SNPs) in 533 control samples and identified on chromosome 1p13.3 two SNPs with genome-wide significant association with plasma GRN levels (top SNP rs646776; p = 1.7 × 10<sup>−30</sup>
). The association of rs646776 with plasma GRN levels was replicated in two independent series of 508 controls (p = 1.9 × 10<sup>−19</sup>
) and 197 FTLD patients (p = 6.4 × 10<sup>−12</sup>
). Overall, each copy of the minor C allele decreased GRN levels by ∼15%. SNP rs646776 is located near sortilin (<italic>SORT1)</italic>
, and the minor C allele of rs646776 was previously associated with increased <italic>SORT1</italic>
mRNA levels. Supporting these findings, overexpression of SORT1 in cultured HeLa cells dramatically reduced GRN levels in the conditioned media, whereas knockdown of SORT1 increased extracellular GRN levels. In summary, we identified significant association of a locus on chromosome 1p13.3 with plasma GRN levels through an unbiased genome-wide screening approach and implicated SORT1 as an important regulator of GRN levels. This finding opens avenues for future research into GRN biology and the pathophysiology of neurodegenerative diseases.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Canada</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><country name="États-Unis"><noRegion><name sortKey="Carrasquillo, Minerva M" sort="Carrasquillo, Minerva M" uniqKey="Carrasquillo M" first="Minerva M." last="Carrasquillo">Minerva M. Carrasquillo</name>
</noRegion>
<name sortKey="Baker, Matt" sort="Baker, Matt" uniqKey="Baker M" first="Matt" last="Baker">Matt Baker</name>
<name sortKey="Bisceglio, Gina D" sort="Bisceglio, Gina D" uniqKey="Bisceglio G" first="Gina D." last="Bisceglio">Gina D. Bisceglio</name>
<name sortKey="Cookson, Mark R" sort="Cookson, Mark R" uniqKey="Cookson M" first="Mark R." last="Cookson">Mark R. Cookson</name>
<name sortKey="Crook, Julia E" sort="Crook, Julia E" uniqKey="Crook J" first="Julia E." last="Crook">Julia E. Crook</name>
<name sortKey="Dejesus Hernandez, Mariely" sort="Dejesus Hernandez, Mariely" uniqKey="Dejesus Hernandez M" first="Mariely" last="Dejesus-Hernandez">Mariely Dejesus-Hernandez</name>
<name sortKey="Dillman, Allissa" sort="Dillman, Allissa" uniqKey="Dillman A" first="Allissa" last="Dillman">Allissa Dillman</name>
<name sortKey="Finch, Nicole" sort="Finch, Nicole" uniqKey="Finch N" first="Nicole" last="Finch">Nicole Finch</name>
<name sortKey="Gibbs, J Raphael" sort="Gibbs, J Raphael" uniqKey="Gibbs J" first="J. Raphael" last="Gibbs">J. Raphael Gibbs</name>
<name sortKey="Graff Radford, Neill R" sort="Graff Radford, Neill R" uniqKey="Graff Radford N" first="Neill R." last="Graff-Radford">Neill R. Graff-Radford</name>
<name sortKey="Hernandez, Dena" sort="Hernandez, Dena" uniqKey="Hernandez D" first="Dena" last="Hernandez">Dena Hernandez</name>
<name sortKey="Hunter, Talisha A" sort="Hunter, Talisha A" uniqKey="Hunter T" first="Talisha A." last="Hunter">Talisha A. Hunter</name>
<name sortKey="Nicholson, Alexandra M" sort="Nicholson, Alexandra M" uniqKey="Nicholson A" first="Alexandra M." last="Nicholson">Alexandra M. Nicholson</name>
<name sortKey="Petersen, Ronald C" sort="Petersen, Ronald C" uniqKey="Petersen R" first="Ronald C." last="Petersen">Ronald C. Petersen</name>
<name sortKey="Rademakers, Rosa" sort="Rademakers, Rosa" uniqKey="Rademakers R" first="Rosa" last="Rademakers">Rosa Rademakers</name>
<name sortKey="Rutherford, Nicola J" sort="Rutherford, Nicola J" uniqKey="Rutherford N" first="Nicola J." last="Rutherford">Nicola J. Rutherford</name>
<name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
<name sortKey="Younkin, Steven G" sort="Younkin, Steven G" uniqKey="Younkin S" first="Steven G." last="Younkin">Steven G. Younkin</name>
</country>
<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Gibbs, J Raphael" sort="Gibbs, J Raphael" uniqKey="Gibbs J" first="J. Raphael" last="Gibbs">J. Raphael Gibbs</name>
</region>
<name sortKey="Hernandez, Dena" sort="Hernandez, Dena" uniqKey="Hernandez D" first="Dena" last="Hernandez">Dena Hernandez</name>
</country>
<country name="Canada"><noRegion><name sortKey="Mackenzie, Ian R" sort="Mackenzie, Ian R" uniqKey="Mackenzie I" first="Ian R." last="Mackenzie">Ian R. Mackenzie</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
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