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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genetic Association of Insulin-like Growth Factor-1 Polymorphisms with High-Grade Myopia in an International Family Cohort</title><author><name sortKey="Metlapally, Ravikanth" sort="Metlapally, Ravikanth" uniqKey="Metlapally R" first="Ravikanth" last="Metlapally">Ravikanth Metlapally</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"></nlm:aff></affiliation></author><author><name sortKey="Ki, Chang Seok" sort="Ki, Chang Seok" uniqKey="Ki C" first="Chang-Seok" last="Ki">Chang-Seok Ki</name><affiliation><nlm:aff id="aff3"></nlm:aff></affiliation><affiliation><nlm:aff id="aff4"></nlm:aff></affiliation></author><author><name sortKey="Li, Yi Ju" sort="Li, Yi Ju" uniqKey="Li Y" first="Yi-Ju" last="Li">Yi-Ju Li</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation><affiliation><nlm:aff id="aff2"></nlm:aff></affiliation></author><author><name sortKey="Tran Viet, Khanh Nhat" sort="Tran Viet, Khanh Nhat" uniqKey="Tran Viet K" first="Khanh-Nhat" last="Tran-Viet">Khanh-Nhat Tran-Viet</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author><author><name sortKey="Abbott, Diana" sort="Abbott, Diana" uniqKey="Abbott D" first="Diana" last="Abbott">Diana Abbott</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author><author><name sortKey="Malecaze, Francois" sort="Malecaze, Francois" uniqKey="Malecaze F" first="Francois" last="Malecaze">Francois Malecaze</name><affiliation><nlm:aff id="aff5"></nlm:aff></affiliation></author><author><name sortKey="Calvas, Patrick" sort="Calvas, Patrick" uniqKey="Calvas P" first="Patrick" last="Calvas">Patrick Calvas</name><affiliation><nlm:aff id="aff5"></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="aff6"></nlm:aff></affiliation></author><author><name sortKey="Rosenberg, Thomas" sort="Rosenberg, Thomas" uniqKey="Rosenberg T" first="Thomas" last="Rosenberg">Thomas Rosenberg</name><affiliation><nlm:aff id="aff7"></nlm:aff></affiliation></author><author><name sortKey="Paget, Sandrine" sort="Paget, Sandrine" uniqKey="Paget S" first="Sandrine" last="Paget">Sandrine Paget</name><affiliation><nlm:aff id="aff5"></nlm:aff></affiliation></author><author><name sortKey="Guggenheim, Jeremy A" sort="Guggenheim, Jeremy A" uniqKey="Guggenheim J" first="Jeremy A." last="Guggenheim">Jeremy A. Guggenheim</name><affiliation><nlm:aff id="aff8"></nlm:aff></affiliation></author><author><name sortKey="Young, Terri L" sort="Young, Terri L" uniqKey="Young T" first="Terri L." last="Young">Terri L. Young</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">20435602</idno><idno type="pmc">2941166</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2941166</idno><idno type="RBID">PMC:2941166</idno><idno type="doi">10.1167/iovs.09-4912</idno><date when="2010">2010</date><idno type="wicri:Area/Pmc/Corpus">001901</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001901</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Genetic Association of Insulin-like Growth Factor-1 Polymorphisms with High-Grade Myopia in an International Family Cohort</title><author><name sortKey="Metlapally, Ravikanth" sort="Metlapally, Ravikanth" uniqKey="Metlapally R" first="Ravikanth" last="Metlapally">Ravikanth Metlapally</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"></nlm:aff></affiliation></author><author><name sortKey="Ki, Chang Seok" sort="Ki, Chang Seok" uniqKey="Ki C" first="Chang-Seok" last="Ki">Chang-Seok Ki</name><affiliation><nlm:aff id="aff3"></nlm:aff></affiliation><affiliation><nlm:aff id="aff4"></nlm:aff></affiliation></author><author><name sortKey="Li, Yi Ju" sort="Li, Yi Ju" uniqKey="Li Y" first="Yi-Ju" last="Li">Yi-Ju Li</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation><affiliation><nlm:aff id="aff2"></nlm:aff></affiliation></author><author><name sortKey="Tran Viet, Khanh Nhat" sort="Tran Viet, Khanh Nhat" uniqKey="Tran Viet K" first="Khanh-Nhat" last="Tran-Viet">Khanh-Nhat Tran-Viet</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author><author><name sortKey="Abbott, Diana" sort="Abbott, Diana" uniqKey="Abbott D" first="Diana" last="Abbott">Diana Abbott</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author><author><name sortKey="Malecaze, Francois" sort="Malecaze, Francois" uniqKey="Malecaze F" first="Francois" last="Malecaze">Francois Malecaze</name><affiliation><nlm:aff id="aff5"></nlm:aff></affiliation></author><author><name sortKey="Calvas, Patrick" sort="Calvas, Patrick" uniqKey="Calvas P" first="Patrick" last="Calvas">Patrick Calvas</name><affiliation><nlm:aff id="aff5"></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="aff6"></nlm:aff></affiliation></author><author><name sortKey="Rosenberg, Thomas" sort="Rosenberg, Thomas" uniqKey="Rosenberg T" first="Thomas" last="Rosenberg">Thomas Rosenberg</name><affiliation><nlm:aff id="aff7"></nlm:aff></affiliation></author><author><name sortKey="Paget, Sandrine" sort="Paget, Sandrine" uniqKey="Paget S" first="Sandrine" last="Paget">Sandrine Paget</name><affiliation><nlm:aff id="aff5"></nlm:aff></affiliation></author><author><name sortKey="Guggenheim, Jeremy A" sort="Guggenheim, Jeremy A" uniqKey="Guggenheim J" first="Jeremy A." last="Guggenheim">Jeremy A. Guggenheim</name><affiliation><nlm:aff id="aff8"></nlm:aff></affiliation></author><author><name sortKey="Young, Terri L" sort="Young, Terri L" uniqKey="Young T" first="Terri L." last="Young">Terri L. Young</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"></nlm:aff></affiliation></author></analytic><series><title level="j">Investigative Ophthalmology & Visual Science</title><idno type="ISSN">0146-0404</idno><idno type="eISSN">1552-5783</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>This article reports the association of IGF-1 with human myopia and supports previous studies in animal models on IGF-1's role in axial ocular growth during myopia development.</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>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Invest Ophthalmol Vis Sci</journal-id><journal-id journal-id-type="hwp">iovs</journal-id><journal-id journal-id-type="pmc">iovs</journal-id><journal-id journal-id-type="publisher-id">IOVS</journal-id><journal-title-group><journal-title>Investigative Ophthalmology & Visual Science</journal-title></journal-title-group><issn pub-type="ppub">0146-0404</issn><issn pub-type="epub">1552-5783</issn><publisher><publisher-name>Association for Research in Vision and Ophthalmology, Inc.</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">20435602</article-id><article-id pub-id-type="pmc">2941166</article-id><article-id pub-id-type="publisher-id">09-4912</article-id><article-id pub-id-type="doi">10.1167/iovs.09-4912</article-id><article-categories><subj-group subj-group-type="heading"><subject>Articles</subject><subj-group><subject>Clinical and Epidemiologic Research</subject></subj-group></subj-group></article-categories><title-group><article-title>Genetic Association of Insulin-like Growth Factor-1 Polymorphisms with High-Grade Myopia in an International Family Cohort</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Metlapally</surname><given-names>Ravikanth</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref><xref ref-type="aff" rid="aff3"><sup>2</sup></xref><xref ref-type="author-notes" rid="FN1"><sup>3</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ki</surname><given-names>Chang-Seok</given-names></name><xref ref-type="aff" rid="aff3"><sup>2</sup></xref><xref ref-type="author-notes" rid="FN1"><sup>3</sup></xref><xref ref-type="aff" rid="aff4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Li</surname><given-names>Yi-Ju</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref><xref ref-type="aff" rid="aff2"><sup>5</sup></xref></contrib><contrib contrib-type="author"><name><surname>Tran-Viet</surname><given-names>Khanh-Nhat</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Abbott</surname><given-names>Diana</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Malecaze</surname><given-names>Francois</given-names></name><xref ref-type="aff" rid="aff5"><sup>6</sup></xref></contrib><contrib contrib-type="author"><name><surname>Calvas</surname><given-names>Patrick</given-names></name><xref ref-type="aff" rid="aff5"><sup>6</sup></xref></contrib><contrib contrib-type="author"><name><surname>Mackey</surname><given-names>David A.</given-names></name><xref ref-type="aff" rid="aff6"><sup>7</sup></xref></contrib><contrib contrib-type="author"><name><surname>Rosenberg</surname><given-names>Thomas</given-names></name><xref ref-type="aff" rid="aff7"><sup>8</sup></xref></contrib><contrib contrib-type="author"><name><surname>Paget</surname><given-names>Sandrine</given-names></name><xref ref-type="aff" rid="aff5"><sup>6</sup></xref></contrib><contrib contrib-type="author"><name><surname>Guggenheim</surname><given-names>Jeremy A.</given-names></name><xref ref-type="aff" rid="aff8"><sup>9</sup></xref></contrib><contrib contrib-type="author" corresp="yes"><name><surname>Young</surname><given-names>Terri L.</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref><xref ref-type="aff" rid="aff3"><sup>2</sup></xref></contrib><aff id="aff1">From the<label>1</label>Center for Human Genetics and</aff><aff id="aff2">the<label>5</label>Department of Biostatistics and Bioinformatics, Duke University Medical Center, Durham, North Carolina;</aff><aff id="aff3">the<label>2</label>Department of Ophthalmology, Duke University Eye Center, Durham, North Carolina;</aff><aff id="aff4">the<label>4</label>Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea;</aff><aff id="aff5">the<label>6</label>Department of Ophthalmology, Toulouse University Hospital, Toulouse, France;</aff><aff id="aff6">the<label>7</label>Lions Eye Institute, Centre for Ophthalmology and Visual Science, University of Western Australia, Perth, Australia;</aff><aff id="aff7">the<label>8</label>Gordon Norrie Centre, National Eye Clinic, Hellerup, Denmark; and</aff><aff id="aff8">the<label>9</label>School of Optometry and Vision Sciences, Cardiff University, Cardiff Wales, United Kingdom.</aff></contrib-group><author-notes><corresp>Corresponding author: Terri L. Young, <addr-line>Duke University Center for Human Genetics, 595 La Salle Street, Durham, NC 27710</addr-line>; <email>terri.young@duke.edu</email>.</corresp><fn id="FN1" fn-type="equal"><label>3</label><p>These authors contributed equally to the work presented here and should therefore be regarded as equivalent authors.</p></fn></author-notes><pub-date pub-type="ppub"><month>9</month><year>2010</year></pub-date><pub-date pub-type="pmc-release"><day>1</day><month>3</month><year>2011</year></pub-date><pmc-comment> PMC Release delay is 6 months and 0 days and was based on the
<volume>51</volume><issue>9</issue><fpage>4476</fpage><lpage>4479</lpage><history><date date-type="received"><day>12</day><month>11</month><year>2009</year></date><date date-type="rev-recd"><day>10</day><month>2</month><year>2010</year></date><date date-type="rev-recd"><day>15</day><month>3</month><year>2010</year></date><date date-type="accepted"><day>30</day><month>3</month><year>2010</year></date></history><permissions><copyright-statement>Copyright © Association for Research in Vision and Ophthalmology</copyright-statement></permissions><self-uri xlink:title="pdf" xlink:type="simple" xlink:href="z7g00910004476.pdf"></self-uri><abstract abstract-type="precis"><p>This article reports the association of IGF-1 with human myopia and supports previous studies in animal models on IGF-1's role in axial ocular growth during myopia development.</p></abstract><abstract><sec><title>Purpose.</title><p>Evidence from human myopia genetic mapping studies (<italic>MYP3</italic> locus), modulated animal models, and observations of glycemic control in humans suggests that insulin-like growth factor (IGF)-1 plays a role in the control of eye growth. This study was conducted to determine whether IGF-1 polymorphisms are associated with myopia in a large, international dataset of Caucasian high-grade myopia pedigrees.</p></sec><sec><title>Methods.</title><p>Two hundred sixty-five multiplex families with 1391 subjects participated in the study. IGF-1 genotyping was performed with 13 selected tag single nucleotide polymorphisms (SNPs) using allelic discrimination assays. A family-based pedigree disequilibrium test (PDT) was performed to test for association. Myopia status was defined using sphere (SPH) or spherical equivalent (SE), and analyses assessed the association of (1) high-grade myopia (≤ −5.00 D), and (2) any myopia (≤ −0.50 D) with IGF-1 markers. Results were declared significant at P ≤ 0.0038 after Bonferroni correction. <italic>Q</italic> values that take into account multiple testing were also obtained.</p></sec><sec><title>Results.</title><p>In all, three SNPs—rs10860860, rs2946834, and rs6214—were present at <italic>P</italic> < 0.05. SNP rs6214 showed positive association with both the high-grade– and any-myopia groups (<italic>P</italic> = 2 × 10<sup>−3</sup> and <italic>P</italic> = 2 × 10<sup>−3</sup>, respectively) after correction for multiple testing.</p></sec><sec><title>Conclusions.</title><p>The study supports a genetic association between IGF-1 and high-grade myopia. These findings are in line with recent evidence in an experimental myopia model showing that IGF-1 promotes ocular growth and axial myopia. IGF-1 may be a myopia candidate gene for further investigation.</p></sec></abstract><funding-group><award-group><funding-source id="CS100">National Institutes of Health</funding-source><award-id rid="CS100">R01 EY014685</award-id></award-group></funding-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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