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Article: Commingling analysis of intraocular pressure and glaucoma in an older Australian population

TitleCommingling analysis of intraocular pressure and glaucoma in an older Australian population
Authors
Issue Date2004
PublisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/AHG
Citation
Annals Of Human Genetics, 2004, v. 68 n. 5, p. 489-497 How to Cite?
AbstractPurpose: To test the hypothesis of a major genetic determinant of intraocular pressure (IOP) under the mixed genetic model in a defined population, and to elucidate the relationship between IOP and glaucoma. Methods: IOP was measured in 3654 persons attending the Blue Mountains Eye Study. A commingling analysis on IOP was performed using a new program, SKUDRIVER. The goodness of fit of 1-, 2- and 3-distribution models was measured. This was repeated after the glaucoma cases had been removed from the dataset, and further repeated on the glaucoma cases in the dataset. Results: The best model was 3-distribution with no evidence for Hardy-Weinberg disequilibrium. The proportion of variance explained by this major effect was 0.18. When glaucoma cases were removed, the best model had 2 distributions. There was no evidence of admixture in glaucoma patients. Conclusions: The findings of this study are consistent with the presence of a major gene accounting for 18% of the variance of IOP, which could therefore influence the risk of glaucoma, in this population. These findings suggest methods of optimizing strategies for family and association studies to identify quantitative trait loci for IOP. No evidence for distinct IOP-dependent and IOP-independent subgroups of glaucoma was found. © University College London 2004.
Persistent Identifierhttp://hdl.handle.net/10722/175977
ISSN
2015 Impact Factor: 1.889
2015 SCImago Journal Rankings: 1.191
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorViswanathan, ACen_US
dc.contributor.authorHitchings, RAen_US
dc.contributor.authorIndar, Aen_US
dc.contributor.authorMitchel, Pen_US
dc.contributor.authorHealey, PRen_US
dc.contributor.authorMcguffin, Pen_US
dc.contributor.authorSham, PCen_US
dc.date.accessioned2012-11-26T09:03:10Z-
dc.date.available2012-11-26T09:03:10Z-
dc.date.issued2004en_US
dc.identifier.citationAnnals Of Human Genetics, 2004, v. 68 n. 5, p. 489-497en_US
dc.identifier.issn0003-4800en_US
dc.identifier.urihttp://hdl.handle.net/10722/175977-
dc.description.abstractPurpose: To test the hypothesis of a major genetic determinant of intraocular pressure (IOP) under the mixed genetic model in a defined population, and to elucidate the relationship between IOP and glaucoma. Methods: IOP was measured in 3654 persons attending the Blue Mountains Eye Study. A commingling analysis on IOP was performed using a new program, SKUDRIVER. The goodness of fit of 1-, 2- and 3-distribution models was measured. This was repeated after the glaucoma cases had been removed from the dataset, and further repeated on the glaucoma cases in the dataset. Results: The best model was 3-distribution with no evidence for Hardy-Weinberg disequilibrium. The proportion of variance explained by this major effect was 0.18. When glaucoma cases were removed, the best model had 2 distributions. There was no evidence of admixture in glaucoma patients. Conclusions: The findings of this study are consistent with the presence of a major gene accounting for 18% of the variance of IOP, which could therefore influence the risk of glaucoma, in this population. These findings suggest methods of optimizing strategies for family and association studies to identify quantitative trait loci for IOP. No evidence for distinct IOP-dependent and IOP-independent subgroups of glaucoma was found. © University College London 2004.en_US
dc.languageengen_US
dc.publisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/AHGen_US
dc.relation.ispartofAnnals of Human Geneticsen_US
dc.subject.meshAdulten_US
dc.subject.meshAgingen_US
dc.subject.meshAustraliaen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenetic Predisposition To Diseaseen_US
dc.subject.meshGenetics, Populationen_US
dc.subject.meshGlaucoma - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshIntraocular Pressure - Geneticsen_US
dc.subject.meshMaleen_US
dc.subject.meshModels, Theoreticalen_US
dc.subject.meshPedigreeen_US
dc.subject.meshRisk Factorsen_US
dc.titleCommingling analysis of intraocular pressure and glaucoma 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.doi10.1046/j.1529-8817.2004.00106.xen_US
dc.identifier.pmid15469425-
dc.identifier.scopuseid_2-s2.0-6444234073en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-6444234073&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume68en_US
dc.identifier.issue5en_US
dc.identifier.spage489en_US
dc.identifier.epage497en_US
dc.identifier.isiWOS:000224686200008-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridViswanathan, AC=7006598235en_US
dc.identifier.scopusauthoridHitchings, RA=7102593636en_US
dc.identifier.scopusauthoridIndar, A=6506822126en_US
dc.identifier.scopusauthoridMitchel, P=55298767200en_US
dc.identifier.scopusauthoridHealey, PR=7004324793en_US
dc.identifier.scopusauthoridMcGuffin, P=22954119700en_US
dc.identifier.scopusauthoridSham, PC=34573429300en_US

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