COL1A1 and COL2A1 Genes and Myopia Susceptibility: Evidence of Association and Suggestive Linkage to the COL2A1 Locus
Identifieur interne : 007C70 ( Main/Exploration ); précédent : 007C69; suivant : 007C71COL1A1 and COL2A1 Genes and Myopia Susceptibility: Evidence of Association and Suggestive Linkage to the COL2A1 Locus
Auteurs : Ravikanth Metlapally [États-Unis] ; Yi-Ju Li [États-Unis] ; Khanh-Nhat Tran-Viet [États-Unis] ; Diana Abbott [États-Unis] ; Gregory R. Czaja [États-Unis] ; Francois Malecaze [France] ; Patrick Calvas [France] ; David Mackey [Australie] ; Thomas Rosenberg [Danemark] ; Sandrine Paget [France] ; Tetyana Zayats [Royaume-Uni] ; Michael J. Owen [Royaume-Uni] ; Jeremy A. Guggenheim [Royaume-Uni] ; Terri L. Young [États-Unis]Source :
- Investigative ophthalmology & visual science [ 0146-0404 ] ; 2009.
Abstract
Collagen involvement in myopia development via scleral remodeling is well-known. Recently,
High-grade myopia was defined as ≤–5.00 D. Two independent datasets comprising 146 (Duke) and 130 (Cardiff) families with high-grade myopia participated in the association study. Allelic discrimination assays were performed on tagging SNPs for
Significant association was identified between five SNPs (rs1034762, rs1635529, rs1793933, rs3803183, and rs17122571) of the
The
Url:
DOI: 10.1167/iovs.08-3346
PubMed: 19387081
PubMed Central: 3936411
Affiliations:
- Australie, Danemark, France, Royaume-Uni, États-Unis
- Caroline du Nord, Midi-Pyrénées, Occitanie (région administrative), Victoria (État)
- Melbourne, Toulouse
- Université de Melbourne
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 001F73
- to stream Pmc, to step Curation: 001E27
- to stream Pmc, to step Checkpoint: 002887
- to stream Ncbi, to step Merge: 000573
- to stream Ncbi, to step Curation: 000573
- to stream Ncbi, to step Checkpoint: 000573
- to stream Main, to step Merge: 008362
- to stream Main, to step Curation: 007C70
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en"><italic>COL1A1</italic>
and <italic>COL2A1</italic>
Genes and Myopia Susceptibility: Evidence of Association and Suggestive Linkage to the <italic>COL2A1</italic>
Locus</title>
<author><name sortKey="Metlapally, Ravikanth" sort="Metlapally, Ravikanth" uniqKey="Metlapally R" first="Ravikanth" last="Metlapally">Ravikanth Metlapally</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Center for Human Genetics, Duke University Eye Center, Durham, North Carolina</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
<wicri:cityArea>Center for Human Genetics, Duke University Eye Center, Durham</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A2">Department of Ophthalmology, Duke University Eye Center, Durham, North Carolina</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
<wicri:cityArea>Department of Ophthalmology, Duke University Eye Center, Durham</wicri:cityArea>
</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 wicri:level="2"><nlm:aff id="A1">Center for Human Genetics, Duke University Eye Center, Durham, North Carolina</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
<wicri:cityArea>Center for Human Genetics, Duke University Eye Center, Durham</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A3">Department of Biostatistics and Bioinformatics, Duke University Medical Center, Durham, North Carolina</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
<wicri:cityArea>Department of Biostatistics and Bioinformatics, Duke University Medical Center, Durham</wicri:cityArea>
</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 wicri:level="2"><nlm:aff id="A1">Center for Human Genetics, Duke University Eye Center, Durham, North Carolina</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
<wicri:cityArea>Center for Human Genetics, Duke University Eye Center, Durham</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Abbott, Diana" sort="Abbott, Diana" uniqKey="Abbott D" first="Diana" last="Abbott">Diana Abbott</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Center for Human Genetics, Duke University Eye Center, Durham, North Carolina</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
<wicri:cityArea>Center for Human Genetics, Duke University Eye Center, Durham</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Czaja, Gregory R" sort="Czaja, Gregory R" uniqKey="Czaja G" first="Gregory R." last="Czaja">Gregory R. Czaja</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Center for Human Genetics, Duke University Eye Center, Durham, North Carolina</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
<wicri:cityArea>Center for Human Genetics, Duke University Eye Center, Durham</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Malecaze, Francois" sort="Malecaze, Francois" uniqKey="Malecaze F" first="Francois" last="Malecaze">Francois Malecaze</name>
<affiliation wicri:level="3"><nlm:aff id="A4">Toulouse University Hospital, Toulouse, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Toulouse University Hospital, Toulouse</wicri:regionArea>
<placeName><region type="region">Occitanie (région administrative)</region>
<region type="old region">Midi-Pyrénées</region>
<settlement type="city">Toulouse</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Calvas, Patrick" sort="Calvas, Patrick" uniqKey="Calvas P" first="Patrick" last="Calvas">Patrick Calvas</name>
<affiliation wicri:level="3"><nlm:aff id="A4">Toulouse University Hospital, Toulouse, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Toulouse University Hospital, Toulouse</wicri:regionArea>
<placeName><region type="region">Occitanie (région administrative)</region>
<region type="old region">Midi-Pyrénées</region>
<settlement type="city">Toulouse</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mackey, David" sort="Mackey, David" uniqKey="Mackey D" first="David" last="Mackey">David Mackey</name>
<affiliation wicri:level="4"><nlm:aff id="A5">Department of Ophthalmology, University of Melbourne, Melbourne, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Ophthalmology, University of Melbourne, Melbourne</wicri:regionArea>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
<settlement type="city">Melbourne</settlement>
</placeName>
<orgName type="university">Université de Melbourne</orgName>
</affiliation>
</author>
<author><name sortKey="Rosenberg, Thomas" sort="Rosenberg, Thomas" uniqKey="Rosenberg T" first="Thomas" last="Rosenberg">Thomas Rosenberg</name>
<affiliation wicri:level="1"><nlm:aff id="A6">Gordon Norrie Centre, National Eye Clinic, Hellerup, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Gordon Norrie Centre, National Eye Clinic, Hellerup</wicri:regionArea>
<wicri:noRegion>Hellerup</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Paget, Sandrine" sort="Paget, Sandrine" uniqKey="Paget S" first="Sandrine" last="Paget">Sandrine Paget</name>
<affiliation wicri:level="3"><nlm:aff id="A4">Toulouse University Hospital, Toulouse, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Toulouse University Hospital, Toulouse</wicri:regionArea>
<placeName><region type="region">Occitanie (région administrative)</region>
<region type="old region">Midi-Pyrénées</region>
<settlement type="city">Toulouse</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zayats, Tetyana" sort="Zayats, Tetyana" uniqKey="Zayats T" first="Tetyana" last="Zayats">Tetyana Zayats</name>
<affiliation wicri:level="1"><nlm:aff id="A7">School of Optometry and Vision Science, Cardiff University, Cardiff, Wales, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>School of Optometry and Vision Science, Cardiff University, Cardiff, Wales</wicri:regionArea>
<wicri:noRegion>Wales</wicri:noRegion>
</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 wicri:level="1"><nlm:aff id="A8">Department of Psychological Medicine, Cardiff University, Cardiff, Wales, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Department of Psychological Medicine, Cardiff University, Cardiff, Wales</wicri:regionArea>
<wicri:noRegion>Wales</wicri:noRegion>
</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 wicri:level="1"><nlm:aff id="A7">School of Optometry and Vision Science, Cardiff University, Cardiff, Wales, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>School of Optometry and Vision Science, Cardiff University, Cardiff, Wales</wicri:regionArea>
<wicri:noRegion>Wales</wicri:noRegion>
</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 wicri:level="2"><nlm:aff id="A1">Center for Human Genetics, Duke University Eye Center, Durham, North Carolina</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
<wicri:cityArea>Center for Human Genetics, Duke University Eye Center, Durham</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A2">Department of Ophthalmology, Duke University Eye Center, Durham, North Carolina</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
<wicri:cityArea>Department of Ophthalmology, Duke University Eye Center, Durham</wicri:cityArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">19387081</idno>
<idno type="pmc">3936411</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3936411</idno>
<idno type="RBID">PMC:3936411</idno>
<idno type="doi">10.1167/iovs.08-3346</idno>
<date when="2009">2009</date>
<idno type="wicri:Area/Pmc/Corpus">001F73</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001F73</idno>
<idno type="wicri:Area/Pmc/Curation">001E27</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001E27</idno>
<idno type="wicri:Area/Pmc/Checkpoint">002887</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002887</idno>
<idno type="wicri:Area/Ncbi/Merge">000573</idno>
<idno type="wicri:Area/Ncbi/Curation">000573</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">000573</idno>
<idno type="wicri:Area/Main/Merge">008362</idno>
<idno type="wicri:Area/Main/Curation">007C70</idno>
<idno type="wicri:Area/Main/Exploration">007C70</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>COL1A1</italic>
and <italic>COL2A1</italic>
Genes and Myopia Susceptibility: Evidence of Association and Suggestive Linkage to the <italic>COL2A1</italic>
Locus</title>
<author><name sortKey="Metlapally, Ravikanth" sort="Metlapally, Ravikanth" uniqKey="Metlapally R" first="Ravikanth" last="Metlapally">Ravikanth Metlapally</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Center for Human Genetics, Duke University Eye Center, Durham, North Carolina</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
<wicri:cityArea>Center for Human Genetics, Duke University Eye Center, Durham</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A2">Department of Ophthalmology, Duke University Eye Center, Durham, North Carolina</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
<wicri:cityArea>Department of Ophthalmology, Duke University Eye Center, Durham</wicri:cityArea>
</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 wicri:level="2"><nlm:aff id="A1">Center for Human Genetics, Duke University Eye Center, Durham, North Carolina</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
<wicri:cityArea>Center for Human Genetics, Duke University Eye Center, Durham</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A3">Department of Biostatistics and Bioinformatics, Duke University Medical Center, Durham, North Carolina</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
<wicri:cityArea>Department of Biostatistics and Bioinformatics, Duke University Medical Center, Durham</wicri:cityArea>
</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 wicri:level="2"><nlm:aff id="A1">Center for Human Genetics, Duke University Eye Center, Durham, North Carolina</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
<wicri:cityArea>Center for Human Genetics, Duke University Eye Center, Durham</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Abbott, Diana" sort="Abbott, Diana" uniqKey="Abbott D" first="Diana" last="Abbott">Diana Abbott</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Center for Human Genetics, Duke University Eye Center, Durham, North Carolina</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
<wicri:cityArea>Center for Human Genetics, Duke University Eye Center, Durham</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Czaja, Gregory R" sort="Czaja, Gregory R" uniqKey="Czaja G" first="Gregory R." last="Czaja">Gregory R. Czaja</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Center for Human Genetics, Duke University Eye Center, Durham, North Carolina</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
<wicri:cityArea>Center for Human Genetics, Duke University Eye Center, Durham</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Malecaze, Francois" sort="Malecaze, Francois" uniqKey="Malecaze F" first="Francois" last="Malecaze">Francois Malecaze</name>
<affiliation wicri:level="3"><nlm:aff id="A4">Toulouse University Hospital, Toulouse, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Toulouse University Hospital, Toulouse</wicri:regionArea>
<placeName><region type="region">Occitanie (région administrative)</region>
<region type="old region">Midi-Pyrénées</region>
<settlement type="city">Toulouse</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Calvas, Patrick" sort="Calvas, Patrick" uniqKey="Calvas P" first="Patrick" last="Calvas">Patrick Calvas</name>
<affiliation wicri:level="3"><nlm:aff id="A4">Toulouse University Hospital, Toulouse, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Toulouse University Hospital, Toulouse</wicri:regionArea>
<placeName><region type="region">Occitanie (région administrative)</region>
<region type="old region">Midi-Pyrénées</region>
<settlement type="city">Toulouse</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mackey, David" sort="Mackey, David" uniqKey="Mackey D" first="David" last="Mackey">David Mackey</name>
<affiliation wicri:level="4"><nlm:aff id="A5">Department of Ophthalmology, University of Melbourne, Melbourne, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Ophthalmology, University of Melbourne, Melbourne</wicri:regionArea>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
<settlement type="city">Melbourne</settlement>
</placeName>
<orgName type="university">Université de Melbourne</orgName>
</affiliation>
</author>
<author><name sortKey="Rosenberg, Thomas" sort="Rosenberg, Thomas" uniqKey="Rosenberg T" first="Thomas" last="Rosenberg">Thomas Rosenberg</name>
<affiliation wicri:level="1"><nlm:aff id="A6">Gordon Norrie Centre, National Eye Clinic, Hellerup, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Gordon Norrie Centre, National Eye Clinic, Hellerup</wicri:regionArea>
<wicri:noRegion>Hellerup</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Paget, Sandrine" sort="Paget, Sandrine" uniqKey="Paget S" first="Sandrine" last="Paget">Sandrine Paget</name>
<affiliation wicri:level="3"><nlm:aff id="A4">Toulouse University Hospital, Toulouse, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Toulouse University Hospital, Toulouse</wicri:regionArea>
<placeName><region type="region">Occitanie (région administrative)</region>
<region type="old region">Midi-Pyrénées</region>
<settlement type="city">Toulouse</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zayats, Tetyana" sort="Zayats, Tetyana" uniqKey="Zayats T" first="Tetyana" last="Zayats">Tetyana Zayats</name>
<affiliation wicri:level="1"><nlm:aff id="A7">School of Optometry and Vision Science, Cardiff University, Cardiff, Wales, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>School of Optometry and Vision Science, Cardiff University, Cardiff, Wales</wicri:regionArea>
<wicri:noRegion>Wales</wicri:noRegion>
</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 wicri:level="1"><nlm:aff id="A8">Department of Psychological Medicine, Cardiff University, Cardiff, Wales, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Department of Psychological Medicine, Cardiff University, Cardiff, Wales</wicri:regionArea>
<wicri:noRegion>Wales</wicri:noRegion>
</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 wicri:level="1"><nlm:aff id="A7">School of Optometry and Vision Science, Cardiff University, Cardiff, Wales, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>School of Optometry and Vision Science, Cardiff University, Cardiff, Wales</wicri:regionArea>
<wicri:noRegion>Wales</wicri:noRegion>
</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 wicri:level="2"><nlm:aff id="A1">Center for Human Genetics, Duke University Eye Center, Durham, North Carolina</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
<wicri:cityArea>Center for Human Genetics, Duke University Eye Center, Durham</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A2">Department of Ophthalmology, Duke University Eye Center, Durham, North Carolina</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
<wicri:cityArea>Department of Ophthalmology, Duke University Eye Center, Durham</wicri:cityArea>
</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">Collagen involvement in myopia development via scleral remodeling is well-known. Recently, <italic>COL1A1</italic>
and <italic>COL2A1</italic>
gene polymorphisms were reported to be associated with high-grade and common myopia, respectively. This study was conducted to investigate whether these collagen genes are associated and/or genetically linked with myopia in large Caucasian family datasets.</p>
</sec>
<sec id="S2"><title>Methods</title>
<p id="P2">High-grade myopia was defined as ≤–5.00 D. Two independent datasets comprising 146 (Duke) and 130 (Cardiff) families with high-grade myopia participated in the association study. Allelic discrimination assays were performed on tagging SNPs for <italic>COL1A1</italic>
and <italic>COL2A1</italic>
. The pedigree disequilibrium test (PDT) and the association test in the presence of linkage (APL) were used for association analyses. Linkage analyses for <italic>COL2A1</italic>
locus markers were performed with the Fastlink and Merlin programs in conjunction with data obtained from our collaborative whole-genome linkage study (254 families).</p>
</sec>
<sec id="S3"><title>Results</title>
<p id="P3">Significant association was identified between five SNPs (rs1034762, rs1635529, rs1793933, rs3803183, and rs17122571) of the <italic>COL2A1</italic>
locus and high-grade myopia (<italic>P</italic>
< 0.045, minimum (min) <italic>P</italic>
= 0.008) and with myopia status set at ≤–0.50 or –0.75 D (min <italic>P</italic>
= 0.004) in the Duke dataset. The SNP rs1635529 also showed significant association in the Cardiff dataset (≤–5.00 D, min <italic>P</italic>
= 0.004; ≤–0.50 D, min <italic>P</italic>
= 0.007). Linkage analyses showed suggestive linkage to the <italic>COL2A1</italic>
locus on 12q. No association was found between <italic>COL1A1</italic>
SNPs and any degree of myopia.</p>
</sec>
<sec id="S4"><title>Conclusions</title>
<p id="P4">The <italic>COL2A1</italic>
gene was associated with high-grade myopia in two independent Caucasian family datasets. <italic>COL1A1</italic>
gene polymorphisms were not associated with myopia in our dataset, indicating possible heterogeneity across different ethnicities.</p>
</sec>
</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>Danemark</li>
<li>France</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Caroline du Nord</li>
<li>Midi-Pyrénées</li>
<li>Occitanie (région administrative)</li>
<li>Victoria (État)</li>
</region>
<settlement><li>Melbourne</li>
<li>Toulouse</li>
</settlement>
<orgName><li>Université de Melbourne</li>
</orgName>
</list>
<tree><country name="États-Unis"><region name="Caroline du Nord"><name sortKey="Metlapally, Ravikanth" sort="Metlapally, Ravikanth" uniqKey="Metlapally R" first="Ravikanth" last="Metlapally">Ravikanth Metlapally</name>
</region>
<name sortKey="Abbott, Diana" sort="Abbott, Diana" uniqKey="Abbott D" first="Diana" last="Abbott">Diana Abbott</name>
<name sortKey="Czaja, Gregory R" sort="Czaja, Gregory R" uniqKey="Czaja G" first="Gregory R." last="Czaja">Gregory R. Czaja</name>
<name sortKey="Li, Yi Ju" sort="Li, Yi Ju" uniqKey="Li Y" first="Yi-Ju" last="Li">Yi-Ju Li</name>
<name sortKey="Li, Yi Ju" sort="Li, Yi Ju" uniqKey="Li Y" first="Yi-Ju" last="Li">Yi-Ju Li</name>
<name sortKey="Metlapally, Ravikanth" sort="Metlapally, Ravikanth" uniqKey="Metlapally R" first="Ravikanth" last="Metlapally">Ravikanth Metlapally</name>
<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>
<name sortKey="Young, Terri L" sort="Young, Terri L" uniqKey="Young T" first="Terri L." last="Young">Terri L. Young</name>
<name sortKey="Young, Terri L" sort="Young, Terri L" uniqKey="Young T" first="Terri L." last="Young">Terri L. Young</name>
</country>
<country name="France"><region name="Occitanie (région administrative)"><name sortKey="Malecaze, Francois" sort="Malecaze, Francois" uniqKey="Malecaze F" first="Francois" last="Malecaze">Francois Malecaze</name>
</region>
<name sortKey="Calvas, Patrick" sort="Calvas, Patrick" uniqKey="Calvas P" first="Patrick" last="Calvas">Patrick Calvas</name>
<name sortKey="Paget, Sandrine" sort="Paget, Sandrine" uniqKey="Paget S" first="Sandrine" last="Paget">Sandrine Paget</name>
</country>
<country name="Australie"><region name="Victoria (État)"><name sortKey="Mackey, David" sort="Mackey, David" uniqKey="Mackey D" first="David" last="Mackey">David Mackey</name>
</region>
</country>
<country name="Danemark"><noRegion><name sortKey="Rosenberg, Thomas" sort="Rosenberg, Thomas" uniqKey="Rosenberg T" first="Thomas" last="Rosenberg">Thomas Rosenberg</name>
</noRegion>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Zayats, Tetyana" sort="Zayats, Tetyana" uniqKey="Zayats T" first="Tetyana" last="Zayats">Tetyana Zayats</name>
</noRegion>
<name sortKey="Guggenheim, Jeremy A" sort="Guggenheim, Jeremy A" uniqKey="Guggenheim J" first="Jeremy A." last="Guggenheim">Jeremy A. Guggenheim</name>
<name sortKey="Owen, Michael J" sort="Owen, Michael J" uniqKey="Owen M" first="Michael J." last="Owen">Michael J. Owen</name>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 007C70 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 007C70 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Asie |area= AustralieFrV1 |flux= Main |étape= Exploration |type= RBID |clé= PMC:3936411 |texte= COL1A1 and COL2A1 Genes and Myopia Susceptibility: Evidence of Association and Suggestive Linkage to the COL2A1 Locus }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:19387081" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \ | NlmPubMed2Wicri -a AustralieFrV1
This area was generated with Dilib version V0.6.33. |