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

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COLIA1 and COL2A1 Genes and Myopia Susceptibility: Evidence of Association and Suggestive Linkage to the COL2A1 Locus

Identifieur interne : 008444 ( Main/Exploration ); précédent : 008443; suivant : 008445

COLIA1 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 : Pascal:10-0057521

Descripteurs français

English descriptors

Abstract

PURPOSE. Collagen involvement in myopia development via scleral remodeling is well-known. Recently, COLIA1 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 COLIA1 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 Cardiffdataset (≤-5.00 D, min P = 0.004; ≤-0.50 D, minP = 0.007). Linkage analyses showed suggestive linkage to the COL2A1 locus on 12q. No association was found between COLIA1 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.


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Le document en format XML

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<name sortKey="Young, Terri L" sort="Young, Terri L" uniqKey="Young T" first="Terri L." last="Young">Terri L. Young</name>
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<title xml:lang="en" level="a">COLIA1 and COL2A1 Genes and Myopia Susceptibility: Evidence of Association and Suggestive Linkage to the COL2A1 Locus</title>
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<name sortKey="Metlapally, Ravikanth" sort="Metlapally, Ravikanth" uniqKey="Metlapally R" first="Ravikanth" last="Metlapally">Ravikanth Metlapally</name>
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</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">
<inist:fA14 i1="07">
<s1>School of Optometry and Vision Science, Cardiff University</s1>
<s2>Cardiff, Wales</s2>
<s3>GBR</s3>
<sZ>11 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Cardiff, 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="1">
<inist:fA14 i1="01">
<s1>Center for Human Genetics, Duke University Medical Center</s1>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Center for Human Genetics, Duke University Medical Center</wicri:noRegion>
</affiliation>
<affiliation wicri:level="2">
<inist:fA14 i1="03">
<s1>Department of Ophthalmology, Duke University Eye Center</s1>
<s2>Durham, North Carolina</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName>
<region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
</author>
</analytic>
<series>
<title level="j" type="main">Investigative ophthalmology & visual science</title>
<title level="j" type="abbreviated">Invest. ophthalmol. vis. sci.</title>
<idno type="ISSN">0146-0404</idno>
<imprint>
<date when="2009">2009</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt>
<title level="j" type="main">Investigative ophthalmology & visual science</title>
<title level="j" type="abbreviated">Invest. ophthalmol. vis. sci.</title>
<idno type="ISSN">0146-0404</idno>
</seriesStmt>
</fileDesc>
<profileDesc>
<textClass>
<keywords scheme="KwdEn" xml:lang="en">
<term>Association</term>
<term>Gene</term>
<term>Locus</term>
<term>Myopia</term>
<term>Ophthalmology</term>
<term>Sensitivity</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr">
<term>Myopie</term>
<term>Gène</term>
<term>Sensibilité</term>
<term>Association</term>
<term>Locus</term>
<term>Ophtalmologie</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr">
<term>Association</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">PURPOSE. Collagen involvement in myopia development via scleral remodeling is well-known. Recently, COLIA1 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 COLIA1 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 Cardiffdataset (≤-5.00 D, min P = 0.004; ≤-0.50 D, minP = 0.007). Linkage analyses showed suggestive linkage to the COL2A1 locus on 12q. No association was found between COLIA1 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.</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">
<noRegion>
<name sortKey="Metlapally, Ravikanth" sort="Metlapally, Ravikanth" uniqKey="Metlapally R" first="Ravikanth" last="Metlapally">Ravikanth Metlapally</name>
</noRegion>
<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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