Source:http://linkedlifedata.com/resource/pubmed/id/19714363
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
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| pubmed:dateCreated |
2010-1-21
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| pubmed:abstractText |
Osteogenesis imperfecta (OI) is a rare connective tissue disorder caused by mutations in the type I collagen genes, COL1A1 and COL1A2, and is characterised by low bone mass and bone fragility. In this study, we explored the relationship between type 1 collagen genes and the quantitative trait central corneal thickness (CCT). CCT was measured in a cohort of 28 Australian type I OI patients and mean CCT was found to be significantly lower compared to a normal population (P < 0.001). We then investigated CCT and corneal collagen fibril diameter and density in a mouse model of OI with a col1a2 mutation. Mean CCT was significantly lower in mutant mice (P = 0.002), as was corneal collagen fibril diameter (P = 0.034), whilst collagen fibril density was significantly greater in mutants (P = 0.034). Finally, we conducted a genetic study to determine whether common single nucleotide polymorphisms (SNPs) in COL1A1 and COL1A2 are associated with CCT variation in the normal human population. Polymorphism rs2696297 (P = 0.003) in COL1A1 and a three SNP haplotype in COL1A2 (P = 0.007) were all significantly associated with normal CCT variation. These data implicate type 1 collagen in the determination of CCT in both OI patients and normal individuals. This provides the first evidence of quantitative trait loci that influence CCT in a normal population and has potential implications for investigating genes involved in glaucoma pathogenesis, a common eye disease in which the severity and progression is influenced by CCT.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Jan
|
| pubmed:issn |
1432-1203
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| pubmed:author |
pubmed-author:BurdonKathryn PKP,
pubmed-author:ChenJern YJY,
pubmed-author:CraigJamie EJE,
pubmed-author:DaveyRichardR,
pubmed-author:DimasiDavid PDP,
pubmed-author:ForbesRobinR,
pubmed-author:HealeyPaul RPR,
pubmed-author:HewittAlex WAW,
pubmed-author:KlebeSonjaS,
pubmed-author:MackeyDavid ADA,
pubmed-author:MitchellPaulP,
pubmed-author:SavarirayanRaviR,
pubmed-author:StirlingJohnJ,
pubmed-author:TanTiong YTY,
pubmed-author:ThompsonElizabethE
|
| pubmed:issnType |
Electronic
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| pubmed:volume |
127
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
33-44
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| pubmed:meshHeading |
pubmed-meshheading:19714363-Animals,
pubmed-meshheading:19714363-Australia,
pubmed-meshheading:19714363-Collagen,
pubmed-meshheading:19714363-Collagen Type I,
pubmed-meshheading:19714363-Cornea,
pubmed-meshheading:19714363-Corneal Topography,
pubmed-meshheading:19714363-Female,
pubmed-meshheading:19714363-Gene Frequency,
pubmed-meshheading:19714363-Genetic Predisposition to Disease,
pubmed-meshheading:19714363-Genotype,
pubmed-meshheading:19714363-Haplotypes,
pubmed-meshheading:19714363-Humans,
pubmed-meshheading:19714363-Male,
pubmed-meshheading:19714363-Mice,
pubmed-meshheading:19714363-Mice, Knockout,
pubmed-meshheading:19714363-Microscopy, Electron,
pubmed-meshheading:19714363-Osteogenesis Imperfecta,
pubmed-meshheading:19714363-Polymorphism, Single Nucleotide,
pubmed-meshheading:19714363-Quantitative Trait Loci
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| pubmed:year |
2010
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| pubmed:articleTitle |
Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes.
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| pubmed:affiliation |
Department of Ophthalmology, Flinders University, Adelaide, SA 5042, Australia. david.dimasi@flinders.edu.au
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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