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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Association Mapping of the High-Grade Myopia <italic>MYP3</italic> Locus Reveals Novel Candidates <italic>UHRF1BP1L</italic>, <italic>PTPRR</italic>, and <italic>PPFIA2</italic></title><author><name sortKey="Hawthorne, Felicia" sort="Hawthorne, Felicia" uniqKey="Hawthorne F" first="Felicia" last="Hawthorne">Felicia Hawthorne</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author><author><name sortKey="Feng, Sheng" sort="Feng, Sheng" uniqKey="Feng S" first="Sheng" last="Feng">Sheng Feng</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina; the</nlm:aff></affiliation></author><author><name sortKey="Metlapally, Ravikanth" sort="Metlapally, Ravikanth" uniqKey="Metlapally R" first="Ravikanth" last="Metlapally">Ravikanth Metlapally</name><affiliation><nlm:aff id="aff3">School of Optometry, University of California-Berkeley, Berkeley, California; the</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></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="Guggenheim, Jeremy A" sort="Guggenheim, Jeremy A" uniqKey="Guggenheim J" first="Jeremy A." last="Guggenheim">Jeremy A. Guggenheim</name><affiliation><nlm:aff id="aff4">School of Optometry, Hong Kong Polytechnic University, Hong Kong; the</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">Institut National de la Santé et de la Recherche Médicale, U563, Centre de Physiopathologie de Toulouse Purpan, Toulouse, France; the</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">Institut National de la Santé et de la Recherche Médicale, U563, Centre de Physiopathologie de Toulouse Purpan, Toulouse, France; the</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="aff6">National Eye Clinic, Kennedy Institute, Hellerup, Denmark; the</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="aff7">Centre for Eye Research Australia, Department of Ophthalmology, University of Melbourne, Parkville, Victoria, Australia; the</nlm:aff></affiliation></author><author><name sortKey="Venturini, Cristina" sort="Venturini, Cristina" uniqKey="Venturini C" first="Cristina" last="Venturini">Cristina Venturini</name><affiliation><nlm:aff id="aff8">Institute of Ophthalmology, University College of London, London, United Kingdom; the</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut="; and" id="aff9">Department of Twin Research and Genetic Epidemiology, King's College London, St. Thomas' Hospital, London, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Hysi, Pirro G" sort="Hysi, Pirro G" uniqKey="Hysi P" first="Pirro G." last="Hysi">Pirro G. Hysi</name><affiliation><nlm:aff wicri:cut="; and" id="aff9">Department of Twin Research and Genetic Epidemiology, King's College London, St. Thomas' Hospital, London, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Hammond, Christopher J" sort="Hammond, Christopher J" uniqKey="Hammond C" first="Christopher J." last="Hammond">Christopher J. Hammond</name><affiliation><nlm:aff wicri:cut="; and" id="aff9">Department of Twin Research and Genetic Epidemiology, King's College London, St. Thomas' Hospital, London, United Kingdom</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="aff10">Duke Eye Center, Duke University Health System, Durham, North Carolina.</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23422819</idno><idno type="pmc">3621505</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3621505</idno><idno type="RBID">PMC:3621505</idno><idno type="doi">10.1167/iovs.12-11102</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">001902</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001902</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Association Mapping of the High-Grade Myopia <italic>MYP3</italic> Locus Reveals Novel Candidates <italic>UHRF1BP1L</italic>, <italic>PTPRR</italic>, and <italic>PPFIA2</italic></title><author><name sortKey="Hawthorne, Felicia" sort="Hawthorne, Felicia" uniqKey="Hawthorne F" first="Felicia" last="Hawthorne">Felicia Hawthorne</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation></author><author><name sortKey="Feng, Sheng" sort="Feng, Sheng" uniqKey="Feng S" first="Sheng" last="Feng">Sheng Feng</name><affiliation><nlm:aff id="aff1"></nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina; the</nlm:aff></affiliation></author><author><name sortKey="Metlapally, Ravikanth" sort="Metlapally, Ravikanth" uniqKey="Metlapally R" first="Ravikanth" last="Metlapally">Ravikanth Metlapally</name><affiliation><nlm:aff id="aff3">School of Optometry, University of California-Berkeley, Berkeley, California; the</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></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="Guggenheim, Jeremy A" sort="Guggenheim, Jeremy A" uniqKey="Guggenheim J" first="Jeremy A." last="Guggenheim">Jeremy A. Guggenheim</name><affiliation><nlm:aff id="aff4">School of Optometry, Hong Kong Polytechnic University, Hong Kong; the</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">Institut National de la Santé et de la Recherche Médicale, U563, Centre de Physiopathologie de Toulouse Purpan, Toulouse, France; the</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">Institut National de la Santé et de la Recherche Médicale, U563, Centre de Physiopathologie de Toulouse Purpan, Toulouse, France; the</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="aff6">National Eye Clinic, Kennedy Institute, Hellerup, Denmark; the</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="aff7">Centre for Eye Research Australia, Department of Ophthalmology, University of Melbourne, Parkville, Victoria, Australia; the</nlm:aff></affiliation></author><author><name sortKey="Venturini, Cristina" sort="Venturini, Cristina" uniqKey="Venturini C" first="Cristina" last="Venturini">Cristina Venturini</name><affiliation><nlm:aff id="aff8">Institute of Ophthalmology, University College of London, London, United Kingdom; the</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut="; and" id="aff9">Department of Twin Research and Genetic Epidemiology, King's College London, St. Thomas' Hospital, London, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Hysi, Pirro G" sort="Hysi, Pirro G" uniqKey="Hysi P" first="Pirro G." last="Hysi">Pirro G. Hysi</name><affiliation><nlm:aff wicri:cut="; and" id="aff9">Department of Twin Research and Genetic Epidemiology, King's College London, St. Thomas' Hospital, London, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Hammond, Christopher J" sort="Hammond, Christopher J" uniqKey="Hammond C" first="Christopher J." last="Hammond">Christopher J. Hammond</name><affiliation><nlm:aff wicri:cut="; and" id="aff9">Department of Twin Research and Genetic Epidemiology, King's College London, St. Thomas' Hospital, London, United Kingdom</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="aff10">Duke Eye Center, Duke University Health System, Durham, North Carolina.</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="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="st1"><title>Purpose.</title><p>Myopia, or nearsightedness, is a common ocular genetic disease for which over 20 candidate genomic loci have been identified. The high-grade myopia locus, <italic>MYP3</italic>, has been reported on chromosome 12q21–23 by four independent linkage studies.</p></sec><sec id="st2"><title>Methods.</title><p>We performed a genetic association study of the <italic>MYP3</italic> locus in a family-based high-grade myopia cohort (<italic>n</italic> = 82) by genotyping 768 single-nucleotide polymorphisms (SNPs) within the linkage region. Qualitative testing for high-grade myopia (sphere ≤ −5 D affected, > −0.5 D unaffected) and quantitative testing on the average dioptric sphere were performed.</p></sec><sec id="st3"><title>Results.</title><p>Several genetic markers were nominally significantly associated with high-grade myopia in qualitative testing, including <italic>rs3803036</italic>, a missense mutation in <italic>PTPRR</italic> (<italic>P</italic> = 9.1 × 10<sup>−<bold>4</bold></sup>) and <italic>rs4764971</italic>, an intronic SNP in <italic>UHRF1BP1L</italic> (<italic>P</italic> = 6.1 × 10<sup>−4</sup>). Quantitative testing determined statistically significant SNPs <italic>rs4764971</italic>, also found by qualitative testing (<italic>P</italic> = 3.1 × 10<sup>−6</sup>); <italic>rs7134216</italic>, in the 3′ untranslated region (UTR) of <italic>DEPDC4</italic> (<italic>P</italic> = 5.4 × 10<sup>−7</sup>); and <italic>rs17306116</italic>, an intronic SNP within <italic>PPFIA2</italic> (<italic>P</italic> < 9 × 10<sup>−4</sup>). Independently conducted whole genome expression array analyses identified protein tyrosine phosphatase genes <italic>PTPRR</italic> and <italic>PPFIA2</italic>, which are in the same gene family, as differentially expressed in normal rapidly growing fetal relative to normal adult ocular tissue (confirmed by RT-qPCR).</p></sec><sec id="st4"><title>Conclusions.</title><p>In an independent high-grade myopia cohort, an intronic SNP in <italic>UHRF1BP1L</italic>, <italic>rs4764971</italic>, was validated for quantitative association, and SNPs within <italic>PTPRR</italic> (quantitative) and <italic>PPFIA2</italic> (qualitative and quantitative) approached significance. Three genes identified by our association study and supported by ocular expression and/or replication, <italic>UHRF1BP1L</italic>, <italic>PTPRR</italic>, and <italic>PPFIA2</italic>, are novel candidates for myopic development within the <italic>MYP3</italic> locus that should be further studied.</p></sec></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="iso-abbrev">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>The Association for Research in Vision and Ophthalmology</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">23422819</article-id><article-id pub-id-type="pmc">3621505</article-id><article-id pub-id-type="doi">10.1167/iovs.12-11102</article-id><article-id pub-id-type="sici">iovs-54-02-56</article-id><article-id pub-id-type="other">IOVS-12-11102</article-id><article-categories><subj-group subj-group-type="heading"><subject>Articles</subject><subj-group><subject>Genetics</subject></subj-group></subj-group></article-categories><title-group><article-title>Association Mapping of the High-Grade Myopia <italic>MYP3</italic> Locus Reveals Novel Candidates <italic>UHRF1BP1L</italic>, <italic>PTPRR</italic>, and <italic>PPFIA2</italic></article-title><alt-title alt-title-type="runhead-right">Mapping of the High-Grade Myopia <italic>MYP3</italic> Locus</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Hawthorne</surname><given-names>Felicia</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Feng</surname><given-names>Sheng</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref><xref ref-type="aff" rid="aff2"><sup>2</sup></xref></contrib><contrib contrib-type="author"><name><surname>Metlapally</surname><given-names>Ravikanth</given-names></name><xref ref-type="aff" rid="aff3"><sup>3</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></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>Guggenheim</surname><given-names>Jeremy A.</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Malecaze</surname><given-names>Francois</given-names></name><xref ref-type="aff" rid="aff5"><sup>5</sup></xref></contrib><contrib contrib-type="author"><name><surname>Calvas</surname><given-names>Patrick</given-names></name><xref ref-type="aff" rid="aff5"><sup>5</sup></xref></contrib><contrib contrib-type="author"><name><surname>Rosenberg</surname><given-names>Thomas</given-names></name><xref ref-type="aff" rid="aff6"><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="aff7"><sup>7</sup></xref></contrib><contrib contrib-type="author"><name><surname>Venturini</surname><given-names>Cristina</given-names></name><xref ref-type="aff" rid="aff8"><sup>8</sup></xref><xref ref-type="aff" rid="aff9"><sup>9</sup></xref></contrib><contrib contrib-type="author"><name><surname>Hysi</surname><given-names>Pirro G.</given-names></name><xref ref-type="aff" rid="aff9"><sup>9</sup></xref></contrib><contrib contrib-type="author"><name><surname>Hammond</surname><given-names>Christopher J.</given-names></name><xref ref-type="aff" rid="aff9"><sup>9</sup></xref></contrib><contrib contrib-type="author"><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="aff10"><sup>10</sup></xref></contrib></contrib-group><aff id="aff1">From the<label>1</label>Duke Center for Human Genetics and the</aff><aff id="aff2"><label>2</label>Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina; the</aff><aff id="aff3"><label>3</label>School of Optometry, University of California-Berkeley, Berkeley, California; the</aff><aff id="aff4"><label>4</label>School of Optometry, Hong Kong Polytechnic University, Hong Kong; the</aff><aff id="aff5"><label>5</label>Institut National de la Santé et de la Recherche Médicale, U563, Centre de Physiopathologie de Toulouse Purpan, Toulouse, France; the</aff><aff id="aff6"><label>6</label>National Eye Clinic, Kennedy Institute, Hellerup, Denmark; the</aff><aff id="aff7"><label>7</label>Centre for Eye Research Australia, Department of Ophthalmology, University of Melbourne, Parkville, Victoria, Australia; the</aff><aff id="aff8"><label>8</label>Institute of Ophthalmology, University College of London, London, United Kingdom; the</aff><aff id="aff9"><label>9</label>Department of Twin Research and Genetic Epidemiology, King's College London, St. Thomas' Hospital, London, United Kingdom; and</aff><aff id="aff10"><label>10</label>Duke Eye Center, Duke University Health System, Durham, North Carolina.</aff><author-notes><corresp id="cor1">Corresponding author: Terri L. Young, Duke Center for Human Genetics, 905 S. LaSalle Street, Durham, NC 27710; <email>terri.young@duke.edu</email>.</corresp></author-notes><pub-date pub-type="epub"><day>21</day><month>3</month><year>2013</year></pub-date><pub-date pub-type="ppub"><month>3</month><year>2013</year></pub-date><volume>54</volume><issue>3</issue><fpage>2076</fpage><lpage>2086</lpage><history><date date-type="received"><day>8</day><month>10</month><year>2012</year></date><date date-type="rev-recd"><day>5</day><month>12</month><year>2012</year></date><date date-type="rev-recd"><day>7</day><month>2</month><year>2013</year></date><date date-type="accepted"><day>9</day><month>2</month><year>2013</year></date></history><permissions><copyright-statement>Copyright 2013 The Association for Research in Vision and Ophthalmology, Inc.</copyright-statement><copyright-year>2013</copyright-year></permissions><abstract><sec id="st1"><title>Purpose.</title><p>Myopia, or nearsightedness, is a common ocular genetic disease for which over 20 candidate genomic loci have been identified. The high-grade myopia locus, <italic>MYP3</italic>, has been reported on chromosome 12q21–23 by four independent linkage studies.</p></sec><sec id="st2"><title>Methods.</title><p>We performed a genetic association study of the <italic>MYP3</italic> locus in a family-based high-grade myopia cohort (<italic>n</italic> = 82) by genotyping 768 single-nucleotide polymorphisms (SNPs) within the linkage region. Qualitative testing for high-grade myopia (sphere ≤ −5 D affected, > −0.5 D unaffected) and quantitative testing on the average dioptric sphere were performed.</p></sec><sec id="st3"><title>Results.</title><p>Several genetic markers were nominally significantly associated with high-grade myopia in qualitative testing, including <italic>rs3803036</italic>, a missense mutation in <italic>PTPRR</italic> (<italic>P</italic> = 9.1 × 10<sup>−<bold>4</bold></sup>) and <italic>rs4764971</italic>, an intronic SNP in <italic>UHRF1BP1L</italic> (<italic>P</italic> = 6.1 × 10<sup>−4</sup>). Quantitative testing determined statistically significant SNPs <italic>rs4764971</italic>, also found by qualitative testing (<italic>P</italic> = 3.1 × 10<sup>−6</sup>); <italic>rs7134216</italic>, in the 3′ untranslated region (UTR) of <italic>DEPDC4</italic> (<italic>P</italic> = 5.4 × 10<sup>−7</sup>); and <italic>rs17306116</italic>, an intronic SNP within <italic>PPFIA2</italic> (<italic>P</italic> < 9 × 10<sup>−4</sup>). Independently conducted whole genome expression array analyses identified protein tyrosine phosphatase genes <italic>PTPRR</italic> and <italic>PPFIA2</italic>, which are in the same gene family, as differentially expressed in normal rapidly growing fetal relative to normal adult ocular tissue (confirmed by RT-qPCR).</p></sec><sec id="st4"><title>Conclusions.</title><p>In an independent high-grade myopia cohort, an intronic SNP in <italic>UHRF1BP1L</italic>, <italic>rs4764971</italic>, was validated for quantitative association, and SNPs within <italic>PTPRR</italic> (quantitative) and <italic>PPFIA2</italic> (qualitative and quantitative) approached significance. Three genes identified by our association study and supported by ocular expression and/or replication, <italic>UHRF1BP1L</italic>, <italic>PTPRR</italic>, and <italic>PPFIA2</italic>, are novel candidates for myopic development within the <italic>MYP3</italic> locus that should be further studied.</p></sec></abstract><abstract abstract-type="precis"><p>Association mapping of the <italic>MYP3</italic> locus reveals novel candidate genes.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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