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Article: Novel quantitative trait loci for central corneal thickness identiWed by candidate gene analysis of osteogenesis imperfecta genes

TitleNovel quantitative trait loci for central corneal thickness identiWed by candidate gene analysis of osteogenesis imperfecta genes
Authors
Issue Date2010
PublisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Citation
Human Genetics, 2010, v. 127 n. 1, p. 33-44 How to Cite?
AbstractOsteogenesis 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 signiWcantly lower compared to a normal population (P < 0.001). We then investigated CCT and corneal collagen Wbril diameter and density in a mouse model of OI with a col1a2 mutation. Mean CCT was signiWcantly lower in mutant mice (P = 0.002), as was corneal collagen Wbril diameter (P = 0.034), whilst collagen Wbril density was signiWcantly 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 signiWcantly 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 Wrst evidence of quantitative trait loci that inXuence 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 inXuenced by CCT.
Persistent Identifierhttp://hdl.handle.net/10722/170434
ISSN
2015 Impact Factor: 5.138
2015 SCImago Journal Rankings: 2.931
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorDimasi, DPen_US
dc.contributor.authorChen, JYen_US
dc.contributor.authorHewitt, AWen_US
dc.contributor.authorKlebe, Sen_US
dc.contributor.authorRichard, Den_US
dc.contributor.authorStirling, Jen_US
dc.contributor.authorThompson, Een_US
dc.contributor.authorForbes, Ren_US
dc.contributor.authorTan, TYen_US
dc.contributor.authorSavarirayan, Ren_US
dc.contributor.authorMackey, DAen_US
dc.contributor.authorHealey, PRen_US
dc.contributor.authorMitchell, Pen_US
dc.contributor.authorBurdon, KPen_US
dc.contributor.authorCraig, JEen_US
dc.date.accessioned2012-10-30T06:08:32Z-
dc.date.available2012-10-30T06:08:32Z-
dc.date.issued2010en_US
dc.identifier.citationHuman Genetics, 2010, v. 127 n. 1, p. 33-44en_US
dc.identifier.issn0340-6717en_US
dc.identifier.urihttp://hdl.handle.net/10722/170434-
dc.description.abstractOsteogenesis 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 signiWcantly lower compared to a normal population (P < 0.001). We then investigated CCT and corneal collagen Wbril diameter and density in a mouse model of OI with a col1a2 mutation. Mean CCT was signiWcantly lower in mutant mice (P = 0.002), as was corneal collagen Wbril diameter (P = 0.034), whilst collagen Wbril density was signiWcantly 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 signiWcantly 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 Wrst evidence of quantitative trait loci that inXuence 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 inXuenced by CCT.en_US
dc.languageengen_US
dc.publisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htmen_US
dc.relation.ispartofHuman Geneticsen_US
dc.titleNovel quantitative trait loci for central corneal thickness identiWed by candidate gene analysis of osteogenesis imperfecta genesen_US
dc.typeArticleen_US
dc.identifier.emailTan, TY:tanty@hku.hken_US
dc.identifier.authorityTan, TY=rp01380en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1007/s00439-009-0729-3en_US
dc.identifier.pmid19714363-
dc.identifier.scopuseid_2-s2.0-77449119555en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-77449119555&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume127en_US
dc.identifier.issue1en_US
dc.identifier.spage33en_US
dc.identifier.epage44en_US
dc.identifier.isiWOS:000272799100003-
dc.publisher.placeGermanyen_US
dc.identifier.scopusauthoridDimasi, DP=12142433200en_US
dc.identifier.scopusauthoridChen, JY=37046619700en_US
dc.identifier.scopusauthoridHewitt, AW=12142162700en_US
dc.identifier.scopusauthoridKlebe, S=6602491668en_US
dc.identifier.scopusauthoridRichard, D=35771419200en_US
dc.identifier.scopusauthoridStirling, J=33568148400en_US
dc.identifier.scopusauthoridThompson, E=18042694100en_US
dc.identifier.scopusauthoridForbes, R=22633922000en_US
dc.identifier.scopusauthoridTan, TY=8567188100en_US
dc.identifier.scopusauthoridSavarirayan, R=7003566196en_US
dc.identifier.scopusauthoridMacKey, DA=22958177700en_US
dc.identifier.scopusauthoridHealey, PR=7004324793en_US
dc.identifier.scopusauthoridMitchell, P=7402933815en_US
dc.identifier.scopusauthoridBurdon, KP=6603187151en_US
dc.identifier.scopusauthoridCraig, JE=35510868100en_US
dc.identifier.citeulike5709935-

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