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Article: Common polymorphisms in the SERPINI2 gene are associated with refractive error in the 1958 British birth cohort

TitleCommon polymorphisms in the SERPINI2 gene are associated with refractive error in the 1958 British birth cohort
Authors
Issue Date2012
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, 2012, v. 53 n. 1, p. 440-447 How to Cite?
AbstractPURPOSE. To identify heritable genetic factors altering susceptibility to refractive error in the general population. METHODS. This was a genetic association study of refractive error investigating genetic polymorphisms in regions previously reported through linkage. Two study panels were drawn from the British 1958 Birth Cohort, composed of 2211 persons 44 years of age at the time of visit. Two main outcomes were considered: refractive error as a continuous outcome (spherical equivalent) and myopia as a diagnosis (defined as spherical equivalent equal to or worse than1.00 diopter). Genotyping was initially performed in 1188 subjects from the outer tertiles of the population distribution, using customized arrays of single nucleotide polymorphisms (SNPs) saturating regions of previously reported highly significant linkage. In a second stage, SNPs most significantly associated were validated in 1023 more persons. Findings were investigated further through human fetal expression studies. RESULTS. Polymorphisms within the SERPINI2 gene were associated with refractive error in two different European subgroups from the 1958 British Birth Cohort (meta-analysis P = 7.4E-05 for rs9810473). Association was also significant for myopia (best association: OR = 0.80; 95% CI, 0.69-0.93; P = 0.003 for rs10936538). Expression profiling of SERPINI2 revealed that the gene is expressed in the retina and in other eye and CNS tissues. CONCLUSIONS. The novel association of SERPINI2 with refractive error and myopia is suggestive of a possible link between physiological pathways controlling eye growth and development and those controlling glucose metabolism. The findings indicate that SERPINI2 is a promising candidate for further investigations of the genetic susceptibility to myopia. © 2012 The Association for Research in Vision and Ophthalmology, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/175989
ISSN
2015 Impact Factor: 3.427
2015 SCImago Journal Rankings: 2.008
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorHysi, PGen_US
dc.contributor.authorSimpson, CLen_US
dc.contributor.authorFok, YKYen_US
dc.contributor.authorGerrelli, Den_US
dc.contributor.authorWebster, ARen_US
dc.contributor.authorBhattacharya, SSen_US
dc.contributor.authorHammond, CJen_US
dc.contributor.authorSham, PCen_US
dc.contributor.authorRahi, JSen_US
dc.date.accessioned2012-11-26T09:03:20Z-
dc.date.available2012-11-26T09:03:20Z-
dc.date.issued2012en_US
dc.identifier.citationInvestigative Ophthalmology And Visual Science, 2012, v. 53 n. 1, p. 440-447en_US
dc.identifier.issn0146-0404en_US
dc.identifier.urihttp://hdl.handle.net/10722/175989-
dc.description.abstractPURPOSE. To identify heritable genetic factors altering susceptibility to refractive error in the general population. METHODS. This was a genetic association study of refractive error investigating genetic polymorphisms in regions previously reported through linkage. Two study panels were drawn from the British 1958 Birth Cohort, composed of 2211 persons 44 years of age at the time of visit. Two main outcomes were considered: refractive error as a continuous outcome (spherical equivalent) and myopia as a diagnosis (defined as spherical equivalent equal to or worse than1.00 diopter). Genotyping was initially performed in 1188 subjects from the outer tertiles of the population distribution, using customized arrays of single nucleotide polymorphisms (SNPs) saturating regions of previously reported highly significant linkage. In a second stage, SNPs most significantly associated were validated in 1023 more persons. Findings were investigated further through human fetal expression studies. RESULTS. Polymorphisms within the SERPINI2 gene were associated with refractive error in two different European subgroups from the 1958 British Birth Cohort (meta-analysis P = 7.4E-05 for rs9810473). Association was also significant for myopia (best association: OR = 0.80; 95% CI, 0.69-0.93; P = 0.003 for rs10936538). Expression profiling of SERPINI2 revealed that the gene is expressed in the retina and in other eye and CNS tissues. CONCLUSIONS. The novel association of SERPINI2 with refractive error and myopia is suggestive of a possible link between physiological pathways controlling eye growth and development and those controlling glucose metabolism. The findings indicate that SERPINI2 is a promising candidate for further investigations of the genetic susceptibility to myopia. © 2012 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.titleCommon polymorphisms in the SERPINI2 gene are associated with refractive error in the 1958 British birth cohorten_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.10-5640en_US
dc.identifier.pmid22110064-
dc.identifier.scopuseid_2-s2.0-84859247946en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-84859247946&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume53en_US
dc.identifier.issue1en_US
dc.identifier.spage440en_US
dc.identifier.epage447en_US
dc.identifier.isiWOS:000302694500064-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridHysi, PG=18133899000en_US
dc.identifier.scopusauthoridSimpson, CL=55163835400en_US
dc.identifier.scopusauthoridFok, YKY=36999259500en_US
dc.identifier.scopusauthoridGerrelli, D=6602741505en_US
dc.identifier.scopusauthoridWebster, AR=55161437100en_US
dc.identifier.scopusauthoridBhattacharya, SS=7404284762en_US
dc.identifier.scopusauthoridHammond, CJ=55163103600en_US
dc.identifier.scopusauthoridSham, PC=34573429300en_US
dc.identifier.scopusauthoridRahi, JS=7003837201en_US
dc.identifier.citeulike10480011-

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