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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">An International Collaborative Family-Based Whole-Genome Linkage Scan for High-Grade Myopia</title><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="A1">Center for Human Genetics and the Departments of, Duke University Medical Center, Durham, North Carolina</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Biostatistics Bioinformatics, Duke University Medical Center, Durham, North Carolina</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="A3">School of Optometry and Vision Sciences, Cardiff University, Cardiff, Wales, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Bulusu, Anuradha" sort="Bulusu, Anuradha" uniqKey="Bulusu A" first="Anuradha" last="Bulusu">Anuradha Bulusu</name><affiliation><nlm:aff id="A1">Center for Human Genetics and the Departments of, Duke University Medical Center, Durham, North Carolina</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="A1">Center for Human Genetics and the Departments of, Duke University Medical Center, Durham, North Carolina</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Ophthalmology, Duke University Medical Center, Durham, North Carolina</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="A1">Center for Human Genetics and the Departments of, Duke University Medical Center, Durham, North Carolina</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="A5">Inserm, U563, Centre de Physiopathologie de Toulouse Purpan, Toulouse, France</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="A5">Inserm, U563, Centre de Physiopathologie de Toulouse Purpan, Toulouse, France</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="A6">National Eye Clinic, Kennedy Institute, Hellerup, Denmark</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="A5">Inserm, U563, Centre de Physiopathologie de Toulouse Purpan, Toulouse, France</nlm:aff></affiliation></author><author><name sortKey="Creer, Rosalind C" sort="Creer, Rosalind C" uniqKey="Creer R" first="Rosalind C." last="Creer">Rosalind C. Creer</name><affiliation><nlm:aff id="A3">School of Optometry and Vision Sciences, Cardiff University, Cardiff, Wales, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Kirov, George" sort="Kirov, George" uniqKey="Kirov G" first="George" last="Kirov">George Kirov</name><affiliation><nlm:aff id="A7">Department of Psychological Medicine, Cardiff University, Cardiff, Wales, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Owen, Michael J" sort="Owen, Michael J" uniqKey="Owen M" first="Michael J." last="Owen">Michael J. Owen</name><affiliation><nlm:aff id="A7">Department of Psychological Medicine, Cardiff University, Cardiff, Wales, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Zhao, Bei" sort="Zhao, Bei" uniqKey="Zhao B" first="Bei" last="Zhao">Bei Zhao</name><affiliation><nlm:aff id="A1">Center for Human Genetics and the Departments of, Duke University Medical Center, Durham, North Carolina</nlm:aff></affiliation></author><author><name sortKey="White, Tristan" sort="White, Tristan" uniqKey="White T" first="Tristan" last="White">Tristan White</name><affiliation><nlm:aff id="A1">Center for Human Genetics and the Departments of, Duke University Medical Center, Durham, North Carolina</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="A8">Centre for Eye Research Australia, Department of Ophthalmology, University of Melbourne, Melbourne, Australia</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="A1">Center for Human Genetics and the Departments of, Duke University Medical Center, Durham, North Carolina</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Ophthalmology, Duke University Medical Center, Durham, North Carolina</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">19324860</idno><idno type="pmc">3696634</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3696634</idno><idno type="RBID">PMC:3696634</idno><idno type="doi">10.1167/iovs.08-2781</idno><date when="2009">2009</date><idno type="wicri:Area/Pmc/Corpus">001F72</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001F72</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">An International Collaborative Family-Based Whole-Genome Linkage Scan for High-Grade Myopia</title><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="A1">Center for Human Genetics and the Departments of, Duke University Medical Center, Durham, North Carolina</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Biostatistics Bioinformatics, Duke University Medical Center, Durham, North Carolina</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="A3">School of Optometry and Vision Sciences, Cardiff University, Cardiff, Wales, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Bulusu, Anuradha" sort="Bulusu, Anuradha" uniqKey="Bulusu A" first="Anuradha" last="Bulusu">Anuradha Bulusu</name><affiliation><nlm:aff id="A1">Center for Human Genetics and the Departments of, Duke University Medical Center, Durham, North Carolina</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="A1">Center for Human Genetics and the Departments of, Duke University Medical Center, Durham, North Carolina</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Ophthalmology, Duke University Medical Center, Durham, North Carolina</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="A1">Center for Human Genetics and the Departments of, Duke University Medical Center, Durham, North Carolina</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="A5">Inserm, U563, Centre de Physiopathologie de Toulouse Purpan, Toulouse, France</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="A5">Inserm, U563, Centre de Physiopathologie de Toulouse Purpan, Toulouse, France</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="A6">National Eye Clinic, Kennedy Institute, Hellerup, Denmark</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="A5">Inserm, U563, Centre de Physiopathologie de Toulouse Purpan, Toulouse, France</nlm:aff></affiliation></author><author><name sortKey="Creer, Rosalind C" sort="Creer, Rosalind C" uniqKey="Creer R" first="Rosalind C." last="Creer">Rosalind C. Creer</name><affiliation><nlm:aff id="A3">School of Optometry and Vision Sciences, Cardiff University, Cardiff, Wales, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Kirov, George" sort="Kirov, George" uniqKey="Kirov G" first="George" last="Kirov">George Kirov</name><affiliation><nlm:aff id="A7">Department of Psychological Medicine, Cardiff University, Cardiff, Wales, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Owen, Michael J" sort="Owen, Michael J" uniqKey="Owen M" first="Michael J." last="Owen">Michael J. Owen</name><affiliation><nlm:aff id="A7">Department of Psychological Medicine, Cardiff University, Cardiff, Wales, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Zhao, Bei" sort="Zhao, Bei" uniqKey="Zhao B" first="Bei" last="Zhao">Bei Zhao</name><affiliation><nlm:aff id="A1">Center for Human Genetics and the Departments of, Duke University Medical Center, Durham, North Carolina</nlm:aff></affiliation></author><author><name sortKey="White, Tristan" sort="White, Tristan" uniqKey="White T" first="Tristan" last="White">Tristan White</name><affiliation><nlm:aff id="A1">Center for Human Genetics and the Departments of, Duke University Medical Center, Durham, North Carolina</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="A8">Centre for Eye Research Australia, Department of Ophthalmology, University of Melbourne, Melbourne, Australia</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="A1">Center for Human Genetics and the Departments of, Duke University Medical Center, Durham, North Carolina</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Ophthalmology, Duke University Medical Center, 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="2009">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>Purpose</title><p id="P1">Several nonsyndromic high-grade myopia loci have been mapped primarily by microsatellite markers and a limited number of pedigrees. In this study, whole-genome linkage scans were performed for high-grade myopia, using single nucleotide polymorphisms (SNPs) in 254 families from five independent sites.</p></sec><sec id="S2"><title>Methods</title><p id="P2">Genomic DNA samples from 1411 subjects were genotyped (Linkage Panel IVb; Illumina, San Diego, CA). Linkage analyses were performed on 1201 samples from 10 Asian, 12 African-American, and 221 Caucasian families, screening for 5744 SNPs after quality-control exclusions. Two disease states defined by sphere (SPH) and spherical equivalence (SE; sphere+cylinder/2) were analyzed. Parametric and nonparametric two-point and multipoint linkage analyses were performed using the FASTLINK, HOMOG, and MERLIN programs. Multiple stratified datasets were examined, including overall, center-specific, and race-specific. Linkage regions were declared suggestive if they had a peak LOD score ≥ 1.5.</p></sec><sec id="S3"><title>Results</title><p id="P3">The MYP1, MYP3, MYP6, MYP11, MYP12, and MYP14 loci were replicated. The novel region q34.11 on chromosome 9 (max NPL= 2.07 at rs913275) was identified. Chromosome 12, region q21.2-24.12 (36.59 cM, MYP3 locus) showed significant linkage (peak HLOD = 3.48) at rs337663 in the overall dataset by SPH and was detected by the Duke, Asian, and Caucasian subsets as well. Potential shared interval was race dependent—a 9.4-cM region (rs163016–rs1520724) driven by the Asian subset and a 1343-cM region (rs163016–rs1520724) driven by the Caucasian subset.</p></sec><sec id="S4"><title>Conclusions</title><p id="P4">The present study is the largest linkage scan to date for familial high-grade myopia. The outcomes will facilitate the identification of genes implicated in myopic refractive error development and ocular growth.</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>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">7703701</journal-id><journal-id journal-id-type="pubmed-jr-id">4371</journal-id><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-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></journal-meta><article-meta><article-id pub-id-type="pmid">19324860</article-id><article-id pub-id-type="pmc">3696634</article-id><article-id pub-id-type="doi">10.1167/iovs.08-2781</article-id><article-id pub-id-type="manuscript">NIHMS130444</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>An International Collaborative Family-Based Whole-Genome Linkage Scan for High-Grade Myopia</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Li</surname><given-names>Yi-Ju</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Guggenheim</surname><given-names>Jeremy A.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Bulusu</surname><given-names>Anuradha</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Metlapally</surname><given-names>Ravikanth</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Abbott</surname><given-names>Diana</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Malecaze</surname><given-names>Francois</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Calvas</surname><given-names>Patrick</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Rosenberg</surname><given-names>Thomas</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Paget</surname><given-names>Sandrine</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Creer</surname><given-names>Rosalind C.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Kirov</surname><given-names>George</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Owen</surname><given-names>Michael J.</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Zhao</surname><given-names>Bei</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>White</surname><given-names>Tristan</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Mackey</surname><given-names>David A.</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Young</surname><given-names>Terri L.</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A4">4</xref></contrib></contrib-group><aff id="A1"><label>1</label>Center for Human Genetics and the Departments of, Duke University Medical Center, Durham, North Carolina</aff><aff id="A2"><label>2</label>Biostatistics Bioinformatics, Duke University Medical Center, Durham, North Carolina</aff><aff id="A3"><label>3</label>School of Optometry and Vision Sciences, Cardiff University, Cardiff, Wales, United Kingdom</aff><aff id="A4"><label>4</label>Ophthalmology, Duke University Medical Center, Durham, North Carolina</aff><aff id="A5"><label>5</label>Inserm, U563, Centre de Physiopathologie de Toulouse Purpan, Toulouse, France</aff><aff id="A6"><label>6</label>National Eye Clinic, Kennedy Institute, Hellerup, Denmark</aff><aff id="A7"><label>7</label>Department of Psychological Medicine, Cardiff University, Cardiff, Wales, United Kingdom</aff><aff id="A8"><label>8</label>Centre for Eye Research Australia, Department of Ophthalmology, University of Melbourne, Melbourne, Australia</aff><author-notes><corresp id="FN1">Corresponding author: Yi-Ju Li, Center for Human Genetics and Department of Biostatistics and Bioinformatics, Duke University Medical Center, DUMC Box 3445, Durham, NC 27710; <email>yiju.li@duke.edu</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>12</day><month>6</month><year>2013</year></pub-date><pub-date pub-type="epub"><day>25</day><month>3</month><year>2009</year></pub-date><pub-date pub-type="ppub"><month>7</month><year>2009</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>7</month><year>2013</year></pub-date><volume>50</volume><issue>7</issue><fpage>3116</fpage><lpage>3127</lpage><abstract><sec id="S1"><title>Purpose</title><p id="P1">Several nonsyndromic high-grade myopia loci have been mapped primarily by microsatellite markers and a limited number of pedigrees. In this study, whole-genome linkage scans were performed for high-grade myopia, using single nucleotide polymorphisms (SNPs) in 254 families from five independent sites.</p></sec><sec id="S2"><title>Methods</title><p id="P2">Genomic DNA samples from 1411 subjects were genotyped (Linkage Panel IVb; Illumina, San Diego, CA). Linkage analyses were performed on 1201 samples from 10 Asian, 12 African-American, and 221 Caucasian families, screening for 5744 SNPs after quality-control exclusions. Two disease states defined by sphere (SPH) and spherical equivalence (SE; sphere+cylinder/2) were analyzed. Parametric and nonparametric two-point and multipoint linkage analyses were performed using the FASTLINK, HOMOG, and MERLIN programs. Multiple stratified datasets were examined, including overall, center-specific, and race-specific. Linkage regions were declared suggestive if they had a peak LOD score ≥ 1.5.</p></sec><sec id="S3"><title>Results</title><p id="P3">The MYP1, MYP3, MYP6, MYP11, MYP12, and MYP14 loci were replicated. The novel region q34.11 on chromosome 9 (max NPL= 2.07 at rs913275) was identified. Chromosome 12, region q21.2-24.12 (36.59 cM, MYP3 locus) showed significant linkage (peak HLOD = 3.48) at rs337663 in the overall dataset by SPH and was detected by the Duke, Asian, and Caucasian subsets as well. Potential shared interval was race dependent—a 9.4-cM region (rs163016–rs1520724) driven by the Asian subset and a 1343-cM region (rs163016–rs1520724) driven by the Caucasian subset.</p></sec><sec id="S4"><title>Conclusions</title><p id="P4">The present study is the largest linkage scan to date for familial high-grade myopia. The outcomes will facilitate the identification of genes implicated in myopic refractive error development and ocular growth.</p></sec></abstract><funding-group><award-group><funding-source country="United States">National Eye Institute : NEI</funding-source><award-id>R01 EY014685-06 || EY</award-id></award-group><award-group><funding-source country="United States">National Eye Institute : NEI</funding-source><award-id>R01 EY014685-05 || EY</award-id></award-group><award-group><funding-source country="United States">National Eye Institute : NEI</funding-source><award-id>R01 EY014685-04 || EY</award-id></award-group><award-group><funding-source country="United States">National Eye Institute : NEI</funding-source><award-id>R01 EY014685-03 || EY</award-id></award-group><award-group><funding-source country="United States">National Eye Institute : NEI</funding-source><award-id>R01 EY014685-02S1 || EY</award-id></award-group><award-group><funding-source country="United States">National Eye Institute : NEI</funding-source><award-id>R01 EY014685-02 || EY</award-id></award-group><award-group><funding-source country="United States">National Eye Institute : NEI</funding-source><award-id>R01 EY014685-01 || EY</award-id></award-group></funding-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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