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Article: Different optineurin mutation pattern in primary open-angle glaucoma

TitleDifferent optineurin mutation pattern in primary open-angle glaucoma
Authors
Issue Date2003
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, 2003, v. 44 n. 9, p. 3880-3884 How to Cite?
AbstractPURPOSE. The optineurin gene (OPTN) is the second gene besides MYOC in which mutations have been identified to be associated with primary open-angle glaucoma (POAG). In this study, sequence alterations in the OPTN gene associated with POAG in Chinese subjects were investigated. METHODS. All the coding exons of OPTN were screened, including the intron-exon boundaries, for sequence alterations in a Chinese sample of 119 sporadic patients with POAG and 126 unrelated control subjects by polymerase chain reaction-conformation-sensitive gel electrophoresis and DNA sequencing. RESULTS. Sixteen sequence changes were identified: 3 had been reported (T34T, M98K, and R545Q) and 13 were novel (T49T, E103D, V148V, P199P, T202T, H486R, IVS6-5T→C, IVS6-10G→A, IVS7+24G→A, IVS8+20G→A, IVS13+21C→G, IVS15+10G→, and IVS15-48C→A). Among them, only E103D, H486R, V148V, and IVS13+21C→G were found exclusively in patients with POAG, whereas P199P, T202T, and IVS8+20G→A were present only in control subjects. The genotype of IVS7+24G→A showed a significant association with POAG (P = 0.02, Fisher two-tailed exact test) and with and increased cup-to-disc ratio in these patients (P = 0.005, Mann-Whitney test). CONCLUSIONS. The findings in the current study enrich the evidence on the OPTN gene as a causative gene for POAG and suggest a different mutation pattern of OPTN in Chinese than in whites. The wide spectrum of putative mutations detected in this study suggests that both structural and functional disruptions in OPTN may contribute to the pathogenesis of glaucoma.
Persistent Identifierhttp://hdl.handle.net/10722/176403
ISSN
2015 Impact Factor: 3.427
2015 SCImago Journal Rankings: 2.008
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLeung, YFen_US
dc.contributor.authorFan, BJen_US
dc.contributor.authorLam, DSCen_US
dc.contributor.authorLee, WSen_US
dc.contributor.authorTam, POSen_US
dc.contributor.authorChua, JKHen_US
dc.contributor.authorTham, CCYen_US
dc.contributor.authorLai, JSMen_US
dc.contributor.authorFan, DSPen_US
dc.contributor.authorPang, CPen_US
dc.date.accessioned2012-11-26T09:11:03Z-
dc.date.available2012-11-26T09:11:03Z-
dc.date.issued2003en_US
dc.identifier.citationInvestigative Ophthalmology And Visual Science, 2003, v. 44 n. 9, p. 3880-3884en_US
dc.identifier.issn0146-0404en_US
dc.identifier.urihttp://hdl.handle.net/10722/176403-
dc.description.abstractPURPOSE. The optineurin gene (OPTN) is the second gene besides MYOC in which mutations have been identified to be associated with primary open-angle glaucoma (POAG). In this study, sequence alterations in the OPTN gene associated with POAG in Chinese subjects were investigated. METHODS. All the coding exons of OPTN were screened, including the intron-exon boundaries, for sequence alterations in a Chinese sample of 119 sporadic patients with POAG and 126 unrelated control subjects by polymerase chain reaction-conformation-sensitive gel electrophoresis and DNA sequencing. RESULTS. Sixteen sequence changes were identified: 3 had been reported (T34T, M98K, and R545Q) and 13 were novel (T49T, E103D, V148V, P199P, T202T, H486R, IVS6-5T→C, IVS6-10G→A, IVS7+24G→A, IVS8+20G→A, IVS13+21C→G, IVS15+10G→, and IVS15-48C→A). Among them, only E103D, H486R, V148V, and IVS13+21C→G were found exclusively in patients with POAG, whereas P199P, T202T, and IVS8+20G→A were present only in control subjects. The genotype of IVS7+24G→A showed a significant association with POAG (P = 0.02, Fisher two-tailed exact test) and with and increased cup-to-disc ratio in these patients (P = 0.005, Mann-Whitney test). CONCLUSIONS. The findings in the current study enrich the evidence on the OPTN gene as a causative gene for POAG and suggest a different mutation pattern of OPTN in Chinese than in whites. The wide spectrum of putative mutations detected in this study suggests that both structural and functional disruptions in OPTN may contribute to the pathogenesis of glaucoma.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.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshAgeden_US
dc.subject.meshAged, 80 And Overen_US
dc.subject.meshAsian Continental Ancestry Group - Geneticsen_US
dc.subject.meshChilden_US
dc.subject.meshDna Mutational Analysisen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenotypeen_US
dc.subject.meshGlaucoma, Open-Angle - Ethnology - Geneticsen_US
dc.subject.meshHong Kong - Epidemiologyen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshMutationen_US
dc.subject.meshPhenotypeen_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.subject.meshSequence Analysis, Dnaen_US
dc.subject.meshTranscription Factor Tfiiia - Geneticsen_US
dc.titleDifferent optineurin mutation pattern in primary open-angle glaucomaen_US
dc.typeArticleen_US
dc.identifier.emailLai, JSM: laism@hku.hken_US
dc.identifier.authorityLai, JSM=rp00295en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1167/iovs.02-0693en_US
dc.identifier.pmid12939304-
dc.identifier.scopuseid_2-s2.0-0042362073en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0042362073&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume44en_US
dc.identifier.issue9en_US
dc.identifier.spage3880en_US
dc.identifier.epage3884en_US
dc.identifier.isiWOS:000184994900022-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridLeung, YF=7201463948en_US
dc.identifier.scopusauthoridFan, BJ=7102879261en_US
dc.identifier.scopusauthoridLam, DSC=35500200200en_US
dc.identifier.scopusauthoridLee, WS=7407084160en_US
dc.identifier.scopusauthoridTam, POS=8044167400en_US
dc.identifier.scopusauthoridChua, JKH=7005163724en_US
dc.identifier.scopusauthoridTham, CCY=7006081241en_US
dc.identifier.scopusauthoridLai, JSM=7401939748en_US
dc.identifier.scopusauthoridFan, DSP=7202965663en_US
dc.identifier.scopusauthoridPang, CP=7201425127en_US

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