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Article: Systematic investigation of the relationship between high myopia and polymorphisms of the MMP2, TIMP2, and TIMP3 genes by a DNA pooling approach

TitleSystematic investigation of the relationship between high myopia and polymorphisms of the MMP2, TIMP2, and TIMP3 genes by a DNA pooling approach
Authors
Issue Date2011
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, 2011, v. 52 n. 6, p. 3893-3900 How to Cite?
AbstractPurpose. This study examined the relationship between high myopia and three myopia candidate genes-matrix metalloproteinase 2 (MMP2) and tissue inhibitor of metalloproteinase-2 and -3 (TIMP2 and TIMP3)-involved in scleral remodeling. Methods. Recruited for the study were unrelated adult Han Chinese who were high myopes (spherical equivalent, ≤ -6.0 D in both eyes; cases) and emmetropes (within ±1.0 D in both eyes; controls). Sample set 1 had 300 cases and 300 controls, and sample set 2 had 356 cases and 354 controls. Forty-nine tag single-nucleotide polymorphisms (SNPs) were selected from these candidate genes. The first stage was an initial screen of six case pools and six control pools constructed from sample set 1, each pool consisting of 50 distinct subjects of the same affection status. In the second stage, positive SNPs from the first stage were confirmed by genotyping individual samples forming the DNA pools. In the third stage, positive SNPs from stage 2 were replicated, with sample set 2 genotyped individually. Results. Of the 49 SNPs screened by DNA pooling, three passed the lenient threshold of P < 0.10 (nested ANOVA) and were followed up by individual genotyping. Of the three SNPs genotyped, two TIMP3 SNPs were found to be significantly associated with high myopia by single-marker or haplotype analysis. However, the initial positive results could not be replicated by sample set 2. Conclusions. MMP2, TIPM2, and TIMP3 genes were not associated with high myopia in this Chinese sample and hence are unlikely to play a major role in the genetic susceptibility to high myopia. © 2011 The Association for Research in Vision and Ophthalmology, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/175986
ISSN
2015 Impact Factor: 3.427
2015 SCImago Journal Rankings: 2.008
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLeung, KHen_US
dc.contributor.authorYiu, WCen_US
dc.contributor.authorYap, MKHen_US
dc.contributor.authorNg, PWen_US
dc.contributor.authorFung, WYen_US
dc.contributor.authorSham, PCen_US
dc.contributor.authorYip, SPen_US
dc.date.accessioned2012-11-26T09:03:19Z-
dc.date.available2012-11-26T09:03:19Z-
dc.date.issued2011en_US
dc.identifier.citationInvestigative Ophthalmology And Visual Science, 2011, v. 52 n. 6, p. 3893-3900en_US
dc.identifier.issn0146-0404en_US
dc.identifier.urihttp://hdl.handle.net/10722/175986-
dc.description.abstractPurpose. This study examined the relationship between high myopia and three myopia candidate genes-matrix metalloproteinase 2 (MMP2) and tissue inhibitor of metalloproteinase-2 and -3 (TIMP2 and TIMP3)-involved in scleral remodeling. Methods. Recruited for the study were unrelated adult Han Chinese who were high myopes (spherical equivalent, ≤ -6.0 D in both eyes; cases) and emmetropes (within ±1.0 D in both eyes; controls). Sample set 1 had 300 cases and 300 controls, and sample set 2 had 356 cases and 354 controls. Forty-nine tag single-nucleotide polymorphisms (SNPs) were selected from these candidate genes. The first stage was an initial screen of six case pools and six control pools constructed from sample set 1, each pool consisting of 50 distinct subjects of the same affection status. In the second stage, positive SNPs from the first stage were confirmed by genotyping individual samples forming the DNA pools. In the third stage, positive SNPs from stage 2 were replicated, with sample set 2 genotyped individually. Results. Of the 49 SNPs screened by DNA pooling, three passed the lenient threshold of P < 0.10 (nested ANOVA) and were followed up by individual genotyping. Of the three SNPs genotyped, two TIMP3 SNPs were found to be significantly associated with high myopia by single-marker or haplotype analysis. However, the initial positive results could not be replicated by sample set 2. Conclusions. MMP2, TIPM2, and TIMP3 genes were not associated with high myopia in this Chinese sample and hence are unlikely to play a major role in the genetic susceptibility to high myopia. © 2011 The Association for Research in Vision and Ophthalmology, Inc.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.titleSystematic investigation of the relationship between high myopia and polymorphisms of the MMP2, TIMP2, and TIMP3 genes by a DNA pooling approachen_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.11-7286en_US
dc.identifier.pmid21421877-
dc.identifier.scopuseid_2-s2.0-80051763988en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-80051763988&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume52en_US
dc.identifier.issue6en_US
dc.identifier.spage3893en_US
dc.identifier.epage3900en_US
dc.identifier.isiWOS:000293335400062-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridLeung, KH=36946027000en_US
dc.identifier.scopusauthoridYiu, WC=54890344700en_US
dc.identifier.scopusauthoridYap, MKH=7006673734en_US
dc.identifier.scopusauthoridNg, PW=16199988300en_US
dc.identifier.scopusauthoridFung, WY=25958608900en_US
dc.identifier.scopusauthoridSham, PC=34573429300en_US
dc.identifier.scopusauthoridYip, SP=7102133673en_US

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