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Exploration
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Racine

Serveur d'exploration sur les relations entre la France et l'Australie

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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 : 007C71

COL1A1 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 :

RBID : PMC:3936411

Abstract

Purpose

Collagen involvement in myopia development via scleral remodeling is well-known. Recently, COL1A1 and COL2A1 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.

Methods

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 COL1A1 and COL2A1. The pedigree disequilibrium test (PDT) and the association test in the presence of linkage (APL) were used for association analyses. Linkage analyses for COL2A1 locus markers were performed with the Fastlink and Merlin programs in conjunction with data obtained from our collaborative whole-genome linkage study (254 families).

Results

Significant association was identified between five SNPs (rs1034762, rs1635529, rs1793933, rs3803183, and rs17122571) of the COL2A1 locus and high-grade myopia (P < 0.045, minimum (min) P = 0.008) and with myopia status set at ≤–0.50 or –0.75 D (min P = 0.004) in the Duke dataset. The SNP rs1635529 also showed significant association in the Cardiff dataset (≤–5.00 D, min P = 0.004; ≤–0.50 D, min P = 0.007). Linkage analyses showed suggestive linkage to the COL2A1 locus on 12q. No association was found between COL1A1 SNPs and any degree of myopia.

Conclusions

The COL2A1 gene was associated with high-grade myopia in two independent Caucasian family datasets. COL1A1 gene polymorphisms were not associated with myopia in our dataset, indicating possible heterogeneity across different ethnicities.


Url:
DOI: 10.1167/iovs.08-3346
PubMed: 19387081
PubMed Central: 3936411


Affiliations:

Links toward previous steps (curation, corpus...)

Le document en format XML

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Genes and Myopia Susceptibility: Evidence of Association and Suggestive Linkage to the
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Locus</title>
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<region type="state">Caroline du Nord</region>
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<settlement type="city">Melbourne</settlement>
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<settlement type="city">Melbourne</settlement>
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<orgName type="university">Université de Melbourne</orgName>
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<name sortKey="Rosenberg, Thomas" sort="Rosenberg, Thomas" uniqKey="Rosenberg T" first="Thomas" last="Rosenberg">Thomas Rosenberg</name>
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<nlm:aff id="A6">Gordon Norrie Centre, National Eye Clinic, Hellerup, Denmark</nlm:aff>
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<wicri:noRegion>Hellerup</wicri:noRegion>
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<name sortKey="Paget, Sandrine" sort="Paget, Sandrine" uniqKey="Paget S" first="Sandrine" last="Paget">Sandrine Paget</name>
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<nlm:aff id="A4">Toulouse University Hospital, Toulouse, France</nlm:aff>
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<region type="region">Occitanie (région administrative)</region>
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<settlement type="city">Toulouse</settlement>
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<author>
<name sortKey="Zayats, Tetyana" sort="Zayats, Tetyana" uniqKey="Zayats T" first="Tetyana" last="Zayats">Tetyana Zayats</name>
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<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>
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<name sortKey="Owen, Michael J" sort="Owen, Michael J" uniqKey="Owen M" first="Michael J." last="Owen">Michael J. Owen</name>
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<name sortKey="Guggenheim, Jeremy A" sort="Guggenheim, Jeremy A" uniqKey="Guggenheim J" first="Jeremy A." last="Guggenheim">Jeremy A. Guggenheim</name>
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<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>
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<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>
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<region type="state">Caroline du Nord</region>
</placeName>
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<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>
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<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>

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