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Article: Evaluation of proteoglycan gene polymorphisms as risk factors in the genetic susceptibility to high myopia

TitleEvaluation of proteoglycan gene polymorphisms as risk factors in the genetic susceptibility to high myopia
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. 9, p. 6396-6403 How to Cite?
AbstractPurpose. To investigate the relationship between high myopia and single nucleotide polymorphisms (SNPs) in six proteoglycan genes: aggrecan (ACAN), fibromodulin (FMOD), decorin (DCN), lumican (LUM), keratocan (KERA), and epiphycan (EPYC). These genes were selected for study because they are involved in induced myopia in animals and/or are within the human MYP3 locus identified by linkage analysis of families with high myopia. Methods. Two groups of Chinese subjects were studied: group 1 (300 cases and 300 controls) and group 2 (356 cases and 354 controls). Cases were high myopes with spherical equivalent (SE) ≤ -8.00 D, and controls had SE between +1.0 and -1.0 D. From these candidate genes, 60 tagging SNPs were selected. First, 12 DNA pools were each constructed from 50 samples of the same phenotype from group 1 subjects and were tested for association with the SNPs. Second, putatively positive SNPs were confirmed by individual genotyping of group 1 subjects. Finally, positive results were replicated in group 2 subjects. Results. Of the 58 SNPs successfully screened by DNA pooling, 8 ACAN SNPs passed the threshold of P ≤ 0.10 (nested ANOVA) and were then genotyped in the individual samples. Haplotypes rs3784757 and rs1516794 showed significant association with high myopia. However, the positive result could not be replicated in the second subject group. Conclusions. These six proteoglycan genes were not associated with high myopia in these Chinese subjects and hence are unlikely to be important in the genetic predisposition to high myopia. © 2011 The Association for Research in Vision and Ophthalmology, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/175987
ISSN
2015 Impact Factor: 3.427
2015 SCImago Journal Rankings: 2.008
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorYip, SPen_US
dc.contributor.authorLeung, KHen_US
dc.contributor.authorNg, PWen_US
dc.contributor.authorFung, WYen_US
dc.contributor.authorSham, PCen_US
dc.contributor.authorYap, MKHen_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. 9, p. 6396-6403en_US
dc.identifier.issn0146-0404en_US
dc.identifier.urihttp://hdl.handle.net/10722/175987-
dc.description.abstractPurpose. To investigate the relationship between high myopia and single nucleotide polymorphisms (SNPs) in six proteoglycan genes: aggrecan (ACAN), fibromodulin (FMOD), decorin (DCN), lumican (LUM), keratocan (KERA), and epiphycan (EPYC). These genes were selected for study because they are involved in induced myopia in animals and/or are within the human MYP3 locus identified by linkage analysis of families with high myopia. Methods. Two groups of Chinese subjects were studied: group 1 (300 cases and 300 controls) and group 2 (356 cases and 354 controls). Cases were high myopes with spherical equivalent (SE) ≤ -8.00 D, and controls had SE between +1.0 and -1.0 D. From these candidate genes, 60 tagging SNPs were selected. First, 12 DNA pools were each constructed from 50 samples of the same phenotype from group 1 subjects and were tested for association with the SNPs. Second, putatively positive SNPs were confirmed by individual genotyping of group 1 subjects. Finally, positive results were replicated in group 2 subjects. Results. Of the 58 SNPs successfully screened by DNA pooling, 8 ACAN SNPs passed the threshold of P ≤ 0.10 (nested ANOVA) and were then genotyped in the individual samples. Haplotypes rs3784757 and rs1516794 showed significant association with high myopia. However, the positive result could not be replicated in the second subject group. Conclusions. These six proteoglycan genes were not associated with high myopia in these Chinese subjects and hence are unlikely to be important in the genetic predisposition 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.titleEvaluation of proteoglycan gene polymorphisms as risk factors in the genetic susceptibility to high myopiaen_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.11-7639en_US
dc.identifier.pmid21743019-
dc.identifier.scopuseid_2-s2.0-80054025649en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-80054025649&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume52en_US
dc.identifier.issue9en_US
dc.identifier.spage6396en_US
dc.identifier.epage6403en_US
dc.identifier.isiWOS:000294548300006-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridYip, SP=7102133673en_US
dc.identifier.scopusauthoridLeung, KH=36946027000en_US
dc.identifier.scopusauthoridNg, PW=16199988300en_US
dc.identifier.scopusauthoridFung, WY=25958608900en_US
dc.identifier.scopusauthoridSham, PC=34573429300en_US
dc.identifier.scopusauthoridYap, MKH=7006673734en_US

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