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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Hypomethylation of the <italic>IL17RC</italic> Promoter in Peripheral Blood Leukocytes is Not A Hallmark of Age-Related Macular Degeneration</title><author><name sortKey="Oliver, Verity F" sort="Oliver, Verity F" uniqKey="Oliver V" first="Verity F" last="Oliver">Verity F. Oliver</name><affiliation><nlm:aff id="A1">Department of Ophthalmology, Wilmer Institute, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, Maryland 21287, USA</nlm:aff></affiliation></author><author><name sortKey="Franchina, Maria" sort="Franchina, Maria" uniqKey="Franchina M" first="Maria" last="Franchina">Maria Franchina</name><affiliation><nlm:aff id="A2">Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth 6009, AUSTRALIA</nlm:aff></affiliation></author><author><name sortKey="Jaffe, Andrew E" sort="Jaffe, Andrew E" uniqKey="Jaffe A" first="Andrew E" last="Jaffe">Andrew E. Jaffe</name><affiliation><nlm:aff id="A3">Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, Maryland 21287, USA</nlm:aff></affiliation></author><author><name sortKey="Branham, Kari E" sort="Branham, Kari E" uniqKey="Branham K" first="Kari E" last="Branham">Kari E. Branham</name><affiliation><nlm:aff id="A4">Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan 48105, USA</nlm:aff></affiliation></author><author><name sortKey="Othman, Mohammad" sort="Othman, Mohammad" uniqKey="Othman M" first="Mohammad" last="Othman">Mohammad Othman</name><affiliation><nlm:aff id="A4">Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan 48105, USA</nlm:aff></affiliation></author><author><name sortKey="Heckenlively, John R" sort="Heckenlively, John R" uniqKey="Heckenlively J" first="John R" last="Heckenlively">John R. Heckenlively</name><affiliation><nlm:aff id="A4">Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan 48105, USA</nlm:aff></affiliation></author><author><name sortKey="Swaroop, Anand" sort="Swaroop, Anand" uniqKey="Swaroop A" first="Anand" last="Swaroop">Anand Swaroop</name><affiliation><nlm:aff id="A5">National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Campochiaro, Betsy" sort="Campochiaro, Betsy" uniqKey="Campochiaro B" first="Betsy" last="Campochiaro">Betsy Campochiaro</name><affiliation><nlm:aff id="A1">Department of Ophthalmology, Wilmer Institute, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, Maryland 21287, USA</nlm:aff></affiliation></author><author><name sortKey="Vote, Brendan J" sort="Vote, Brendan J" uniqKey="Vote B" first="Brendan J" last="Vote">Brendan J. Vote</name><affiliation><nlm:aff id="A6">Launceston Eye Institute, University of Tasmania, Launceston 7249, AUSTRALIA</nlm:aff></affiliation></author><author><name sortKey="Craig, Jamie E" sort="Craig, Jamie E" uniqKey="Craig J" first="Jamie E" last="Craig">Jamie E. Craig</name><affiliation><nlm:aff id="A7">Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide 5042, AUSTRALIA</nlm:aff></affiliation></author><author><name sortKey="Saffery, Richard" sort="Saffery, Richard" uniqKey="Saffery R" first="Richard" last="Saffery">Richard Saffery</name><affiliation><nlm:aff id="A8">Cancer and Disease Epigenetics, Murdoch Childrens Research Institute, University of Melbourne, Royal Children’s Hospital, Melbourne 3052, AUSTRALIA</nlm:aff></affiliation></author><author><name sortKey="Mackey, David A" sort="Mackey, David A" uniqKey="Mackey D" first="David A" last="Mackey">David A. Mackey</name><affiliation><nlm:aff id="A2">Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth 6009, AUSTRALIA</nlm:aff></affiliation></author><author><name sortKey="Qian, Jiang" sort="Qian, Jiang" uniqKey="Qian J" first="Jiang" last="Qian">Jiang Qian</name><affiliation><nlm:aff id="A1">Department of Ophthalmology, Wilmer Institute, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, Maryland 21287, USA</nlm:aff></affiliation></author><author><name sortKey="Zack, Donald J" sort="Zack, Donald J" uniqKey="Zack D" first="Donald J" last="Zack">Donald J. Zack</name><affiliation><nlm:aff id="A1">Department of Ophthalmology, Wilmer Institute, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, Maryland 21287, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A9">Department of Molecular Biology and Genetics, Department of Neuroscience, and Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, Maryland 21287, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Institut de la Vision, Université Pierre et Marie Curie, Paris 75012, FRANCE</nlm:aff></affiliation></author><author><name sortKey="Hewitt, Alex W" sort="Hewitt, Alex W" uniqKey="Hewitt A" first="Alex W" last="Hewitt">Alex W. Hewitt</name><affiliation><nlm:aff id="A2">Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth 6009, AUSTRALIA</nlm:aff></affiliation><affiliation><nlm:aff id="A11">Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye & Ear Hospital, East Melbourne 3002, AUSTRALIA</nlm:aff></affiliation></author><author><name sortKey="Merbs, Shannath L" sort="Merbs, Shannath L" uniqKey="Merbs S" first="Shannath L" last="Merbs">Shannath L. Merbs</name><affiliation><nlm:aff id="A1">Department of Ophthalmology, Wilmer Institute, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, Maryland 21287, USA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24373284</idno><idno type="pmc">3926096</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3926096</idno><idno type="RBID">PMC:3926096</idno><idno type="doi">10.1016/j.celrep.2013.11.042</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">001E78</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001E78</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Hypomethylation of the <italic>IL17RC</italic> Promoter in Peripheral Blood Leukocytes is Not A Hallmark of Age-Related Macular Degeneration</title><author><name sortKey="Oliver, Verity F" sort="Oliver, Verity F" uniqKey="Oliver V" first="Verity F" last="Oliver">Verity F. Oliver</name><affiliation><nlm:aff id="A1">Department of Ophthalmology, Wilmer Institute, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, Maryland 21287, USA</nlm:aff></affiliation></author><author><name sortKey="Franchina, Maria" sort="Franchina, Maria" uniqKey="Franchina M" first="Maria" last="Franchina">Maria Franchina</name><affiliation><nlm:aff id="A2">Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth 6009, AUSTRALIA</nlm:aff></affiliation></author><author><name sortKey="Jaffe, Andrew E" sort="Jaffe, Andrew E" uniqKey="Jaffe A" first="Andrew E" last="Jaffe">Andrew E. Jaffe</name><affiliation><nlm:aff id="A3">Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, Maryland 21287, USA</nlm:aff></affiliation></author><author><name sortKey="Branham, Kari E" sort="Branham, Kari E" uniqKey="Branham K" first="Kari E" last="Branham">Kari E. Branham</name><affiliation><nlm:aff id="A4">Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan 48105, USA</nlm:aff></affiliation></author><author><name sortKey="Othman, Mohammad" sort="Othman, Mohammad" uniqKey="Othman M" first="Mohammad" last="Othman">Mohammad Othman</name><affiliation><nlm:aff id="A4">Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan 48105, USA</nlm:aff></affiliation></author><author><name sortKey="Heckenlively, John R" sort="Heckenlively, John R" uniqKey="Heckenlively J" first="John R" last="Heckenlively">John R. Heckenlively</name><affiliation><nlm:aff id="A4">Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan 48105, USA</nlm:aff></affiliation></author><author><name sortKey="Swaroop, Anand" sort="Swaroop, Anand" uniqKey="Swaroop A" first="Anand" last="Swaroop">Anand Swaroop</name><affiliation><nlm:aff id="A5">National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Campochiaro, Betsy" sort="Campochiaro, Betsy" uniqKey="Campochiaro B" first="Betsy" last="Campochiaro">Betsy Campochiaro</name><affiliation><nlm:aff id="A1">Department of Ophthalmology, Wilmer Institute, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, Maryland 21287, USA</nlm:aff></affiliation></author><author><name sortKey="Vote, Brendan J" sort="Vote, Brendan J" uniqKey="Vote B" first="Brendan J" last="Vote">Brendan J. Vote</name><affiliation><nlm:aff id="A6">Launceston Eye Institute, University of Tasmania, Launceston 7249, AUSTRALIA</nlm:aff></affiliation></author><author><name sortKey="Craig, Jamie E" sort="Craig, Jamie E" uniqKey="Craig J" first="Jamie E" last="Craig">Jamie E. Craig</name><affiliation><nlm:aff id="A7">Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide 5042, AUSTRALIA</nlm:aff></affiliation></author><author><name sortKey="Saffery, Richard" sort="Saffery, Richard" uniqKey="Saffery R" first="Richard" last="Saffery">Richard Saffery</name><affiliation><nlm:aff id="A8">Cancer and Disease Epigenetics, Murdoch Childrens Research Institute, University of Melbourne, Royal Children’s Hospital, Melbourne 3052, AUSTRALIA</nlm:aff></affiliation></author><author><name sortKey="Mackey, David A" sort="Mackey, David A" uniqKey="Mackey D" first="David A" last="Mackey">David A. Mackey</name><affiliation><nlm:aff id="A2">Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth 6009, AUSTRALIA</nlm:aff></affiliation></author><author><name sortKey="Qian, Jiang" sort="Qian, Jiang" uniqKey="Qian J" first="Jiang" last="Qian">Jiang Qian</name><affiliation><nlm:aff id="A1">Department of Ophthalmology, Wilmer Institute, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, Maryland 21287, USA</nlm:aff></affiliation></author><author><name sortKey="Zack, Donald J" sort="Zack, Donald J" uniqKey="Zack D" first="Donald J" last="Zack">Donald J. Zack</name><affiliation><nlm:aff id="A1">Department of Ophthalmology, Wilmer Institute, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, Maryland 21287, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A9">Department of Molecular Biology and Genetics, Department of Neuroscience, and Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, Maryland 21287, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Institut de la Vision, Université Pierre et Marie Curie, Paris 75012, FRANCE</nlm:aff></affiliation></author><author><name sortKey="Hewitt, Alex W" sort="Hewitt, Alex W" uniqKey="Hewitt A" first="Alex W" last="Hewitt">Alex W. Hewitt</name><affiliation><nlm:aff id="A2">Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth 6009, AUSTRALIA</nlm:aff></affiliation><affiliation><nlm:aff id="A11">Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye & Ear Hospital, East Melbourne 3002, AUSTRALIA</nlm:aff></affiliation></author><author><name sortKey="Merbs, Shannath L" sort="Merbs, Shannath L" uniqKey="Merbs S" first="Shannath L" last="Merbs">Shannath L. Merbs</name><affiliation><nlm:aff id="A1">Department of Ophthalmology, Wilmer Institute, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, Maryland 21287, USA</nlm:aff></affiliation></author></analytic><series><title level="j">Cell reports</title><idno type="eISSN">2211-1247</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><title>SUMMARY</title><p id="P2">Age-related macular degeneration (AMD) is a leading cause of visual impairment worldwide. Aberrant DNA methylation within the promoter of <italic>IL17RC</italic> in peripheral blood mononuclear cells has recently been reported in AMD. To validate this association, we examined DNA methylation of the <italic>IL17RC</italic> promoter in peripheral blood. First, we used Illumina Human Methylation450 Bead Arrays, a widely-accepted platform for measuring global DNA methylation. Second, methylation status at multiple sites within the <italic>IL17RC</italic> promoter was determined by bisulfite pyrosequencing in two cohorts. Third, a methylation-sensitive QPCR-based assay was performed on a subset of samples. In contrast to previous findings, we did not find evidence of differential methylation between AMD cases and age-matched controls. We conclude that hypomethylation within the <italic>IL17RC</italic> gene promoter in peripheral blood is not suitable for use as a clinical biomarker of AMD. This study highlights the need for considerable replication of epigenetic association studies prior to clinical application.</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">101573691</journal-id><journal-id journal-id-type="pubmed-jr-id">39703</journal-id><journal-id journal-id-type="nlm-ta">Cell Rep</journal-id><journal-id journal-id-type="iso-abbrev">Cell Rep</journal-id><journal-title-group><journal-title>Cell reports</journal-title></journal-title-group><issn pub-type="epub">2211-1247</issn></journal-meta><article-meta><article-id pub-id-type="pmid">24373284</article-id><article-id pub-id-type="pmc">3926096</article-id><article-id pub-id-type="doi">10.1016/j.celrep.2013.11.042</article-id><article-id pub-id-type="manuscript">NIHMS545560</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Hypomethylation of the <italic>IL17RC</italic> Promoter in Peripheral Blood Leukocytes is Not A Hallmark of Age-Related Macular Degeneration</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Oliver</surname><given-names>Verity F</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="author-notes" rid="FN1">12</xref></contrib><contrib contrib-type="author"><name><surname>Franchina</surname><given-names>Maria</given-names></name><xref ref-type="aff" rid="A2">2</xref><xref ref-type="author-notes" rid="FN1">12</xref></contrib><contrib contrib-type="author"><name><surname>Jaffe</surname><given-names>Andrew E</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Branham</surname><given-names>Kari E</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Othman</surname><given-names>Mohammad</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Heckenlively</surname><given-names>John R</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Swaroop</surname><given-names>Anand</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Campochiaro</surname><given-names>Betsy</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Vote</surname><given-names>Brendan J</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Craig</surname><given-names>Jamie E</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Saffery</surname><given-names>Richard</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Mackey</surname><given-names>David A</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Qian</surname><given-names>Jiang</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Zack</surname><given-names>Donald J</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A9">9</xref><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Hewitt</surname><given-names>Alex W</given-names></name><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A11">11</xref><xref ref-type="author-notes" rid="FN1">12</xref><xref ref-type="corresp" rid="cor1">*</xref></contrib><contrib contrib-type="author"><name><surname>Merbs</surname><given-names>Shannath L</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="author-notes" rid="FN1">12</xref><xref ref-type="corresp" rid="cor2">**</xref></contrib></contrib-group><aff id="A1"><label>1</label>Department of Ophthalmology, Wilmer Institute, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, Maryland 21287, USA</aff><aff id="A2"><label>2</label>Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth 6009, AUSTRALIA</aff><aff id="A3"><label>3</label>Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, Maryland 21287, USA</aff><aff id="A4"><label>4</label>Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan 48105, USA</aff><aff id="A5"><label>5</label>National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA</aff><aff id="A6"><label>6</label>Launceston Eye Institute, University of Tasmania, Launceston 7249, AUSTRALIA</aff><aff id="A7"><label>7</label>Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide 5042, AUSTRALIA</aff><aff id="A8"><label>8</label>Cancer and Disease Epigenetics, Murdoch Childrens Research Institute, University of Melbourne, Royal Children’s Hospital, Melbourne 3052, AUSTRALIA</aff><aff id="A9"><label>9</label>Department of Molecular Biology and Genetics, Department of Neuroscience, and Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, Maryland 21287, USA</aff><aff id="A10"><label>10</label>Institut de la Vision, Université Pierre et Marie Curie, Paris 75012, FRANCE</aff><aff id="A11"><label>11</label>Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye & Ear Hospital, East Melbourne 3002, AUSTRALIA</aff><author-notes><corresp id="cor1"><label>*</label>Correspondence: <email>hewitt.alex@gmail.com</email> (AWH)</corresp><corresp id="cor2"><label>**</label> Correspondence: <email>smerbs@jhmi.edu</email> (SLM)</corresp><fn id="FN1" fn-type="equal"><label>12</label><p id="P1">These authors equally contributed to this work</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>4</day><month>2</month><year>2014</year></pub-date><pub-date pub-type="ppub"><day>26</day><month>12</month><year>2013</year></pub-date><pub-date pub-type="pmc-release"><day>26</day><month>12</month><year>2014</year></pub-date><volume>5</volume><issue>6</issue><fpage>1527</fpage><lpage>1535</lpage><pmc-comment>elocation-id from pubmed: 10.1016/j.celrep.2013.11.042</pmc-comment>
<permissions><copyright-statement>Crown Copyright © 2013 The Authors. Published by Elsevier Inc. All rights reserved.</copyright-statement><copyright-year>2013</copyright-year></permissions><abstract><title>SUMMARY</title><p id="P2">Age-related macular degeneration (AMD) is a leading cause of visual impairment worldwide. Aberrant DNA methylation within the promoter of <italic>IL17RC</italic> in peripheral blood mononuclear cells has recently been reported in AMD. To validate this association, we examined DNA methylation of the <italic>IL17RC</italic> promoter in peripheral blood. First, we used Illumina Human Methylation450 Bead Arrays, a widely-accepted platform for measuring global DNA methylation. Second, methylation status at multiple sites within the <italic>IL17RC</italic> promoter was determined by bisulfite pyrosequencing in two cohorts. Third, a methylation-sensitive QPCR-based assay was performed on a subset of samples. In contrast to previous findings, we did not find evidence of differential methylation between AMD cases and age-matched controls. We conclude that hypomethylation within the <italic>IL17RC</italic> gene promoter in peripheral blood is not suitable for use as a clinical biomarker of AMD. This study highlights the need for considerable replication of epigenetic association studies prior to clinical application.</p></abstract><funding-group><award-group><funding-source country="United States">National Eye Institute : NEI</funding-source><award-id>R01 EY020406 || EY</award-id></award-group></funding-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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