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Article: Major genetic effects in glaucoma: Commingling analysis of optic disc parameters in an older Australian population

TitleMajor genetic effects in glaucoma: Commingling analysis of optic disc parameters in an older Australian population
Authors
Issue Date2009
PublisherAssociation for Research in Vision and Ophthalmology. The Journal's web site is located at http://www.iovs.org
Citation
Investigative Ophthalmology And Visual Science, 2009, v. 50 n. 11, p. 5275-5280 How to Cite?
AbstractPURPOSE. To test the hypothesis that there is a major genetic determinant of vertical disc diameter (VDD) and vertical cupto- disc ratio (VCDR) in a large, population-based sample. METHODS. Data were collected from 3654 individuals, 49 years of age or older, participating in the Blue Mountains Eye Study. VDD and VCDR were determined from stereo optic disc photographs. Commingling analyses in SKUDRIVER/SKUMIX were performed in nonglaucomatous eyes to investigate whether the observed VDD and VCDR data were best described by a one-, two-, or three-distribution model. RESULTS. VDD data did not show evidence of commingling. After adjustment for the effects of age, VDD and intraocular pressure, the best model for VCDR consisted of a mixture of three distributions in Hardy-Weinberg equilibrium. The proportion of the variance in VCDR explained by this mixing component was 0.58. CONCLUSIONS. Findings from this study are consistent with the presence of a major gene that accounts for 58% of the variance in VCDR. These results strongly support further efforts to identify the genetic variants responsible for this quantitative trait, which is a key constituent of the phenotype of primary open-angle glaucoma (POAG). © Association for Research in Vision and Ophthalmology.
Persistent Identifierhttp://hdl.handle.net/10722/175983
ISSN
2015 Impact Factor: 3.427
2015 SCImago Journal Rankings: 2.008
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorVan Koolwijk, LMEen_US
dc.contributor.authorHealey, PRen_US
dc.contributor.authorHitchings, RAen_US
dc.contributor.authorMitchell, Pen_US
dc.contributor.authorSham, PCen_US
dc.contributor.authorMcguffin, Pen_US
dc.contributor.authorViswanathan, ACen_US
dc.date.accessioned2012-11-26T09:03:16Z-
dc.date.available2012-11-26T09:03:16Z-
dc.date.issued2009en_US
dc.identifier.citationInvestigative Ophthalmology And Visual Science, 2009, v. 50 n. 11, p. 5275-5280en_US
dc.identifier.issn0146-0404en_US
dc.identifier.urihttp://hdl.handle.net/10722/175983-
dc.description.abstractPURPOSE. To test the hypothesis that there is a major genetic determinant of vertical disc diameter (VDD) and vertical cupto- disc ratio (VCDR) in a large, population-based sample. METHODS. Data were collected from 3654 individuals, 49 years of age or older, participating in the Blue Mountains Eye Study. VDD and VCDR were determined from stereo optic disc photographs. Commingling analyses in SKUDRIVER/SKUMIX were performed in nonglaucomatous eyes to investigate whether the observed VDD and VCDR data were best described by a one-, two-, or three-distribution model. RESULTS. VDD data did not show evidence of commingling. After adjustment for the effects of age, VDD and intraocular pressure, the best model for VCDR consisted of a mixture of three distributions in Hardy-Weinberg equilibrium. The proportion of the variance in VCDR explained by this mixing component was 0.58. CONCLUSIONS. Findings from this study are consistent with the presence of a major gene that accounts for 58% of the variance in VCDR. These results strongly support further efforts to identify the genetic variants responsible for this quantitative trait, which is a key constituent of the phenotype of primary open-angle glaucoma (POAG). © Association for Research in Vision and Ophthalmology.en_US
dc.languageengen_US
dc.publisherAssociation for Research in Vision and Ophthalmology. The Journal's web site is located at http://www.iovs.orgen_US
dc.relation.ispartofInvestigative Ophthalmology and Visual Scienceen_US
dc.subject.meshAgeden_US
dc.subject.meshAged, 80 And Overen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenetic Predisposition To Disease - Geneticsen_US
dc.subject.meshGenetics, Populationen_US
dc.subject.meshGlaucoma, Open-Angle - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshIntraocular Pressure - Geneticsen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshModels, Statisticalen_US
dc.subject.meshOptic Disk - Pathologyen_US
dc.subject.meshOptic Nerve Diseases - Geneticsen_US
dc.subject.meshTonometry, Ocularen_US
dc.titleMajor genetic effects in glaucoma: Commingling analysis of optic disc parameters in an older Australian populationen_US
dc.typeArticleen_US
dc.identifier.emailSham, PC: pcsham@hku.hken_US
dc.identifier.authoritySham, PC=rp00459en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1167/iovs.08-3065en_US
dc.identifier.pmid19458335-
dc.identifier.scopuseid_2-s2.0-77955134589en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-77955134589&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume50en_US
dc.identifier.issue11en_US
dc.identifier.spage5275en_US
dc.identifier.epage5280en_US
dc.identifier.isiWOS:000271429200034-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridvan Koolwijk, LME=11940167500en_US
dc.identifier.scopusauthoridHealey, PR=7004324793en_US
dc.identifier.scopusauthoridHitchings, RA=7102593636en_US
dc.identifier.scopusauthoridMitchell, P=7402933815en_US
dc.identifier.scopusauthoridSham, PC=34573429300en_US
dc.identifier.scopusauthoridMcguffin, P=22954119700en_US
dc.identifier.scopusauthoridViswanathan, AC=7006598235en_US

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