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Article: A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25

TitleA genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25
Authors
Hysi, PGYoung, TLMacKey, DAAndrew, TFernándezMedarde, ASolouki, AMHewitt, AWMacGregor, SVingerling, JRLi, YJIkram, MKFai, LYSham, PCManyes, LPorteros, ALopes, MCCarbonaro, FFahy, SJMartin, NGVan Duijn, CMSpector, TDRahi, JSSantos, EKlaver, CCWHammond, CJ
Issue Date2010
PublisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
Citation
Nature Genetics, 2010, v. 42 n. 10, p. 902-905 How to Cite?
DOI: http://dx.doi.org/10.1038/ng.664
AbstractMyopia and hyperopia are at opposite ends of the continuum of refraction, the measure of the eyeĝ€2s ability to focus light, which is an important cause of visual impairment (when aberrant) and is a highly heritable trait. We conducted a genome-wide association study for refractive error in 4,270 individuals from the TwinsUK cohort. We identified SNPs on 15q25 associated with refractive error (rs8027411, P = 7.91 × 10 -8). We replicated this association in six adult cohorts of European ancestry with a combined 13,414 individuals (combined P = 2.07 × 10 -9). This locus overlaps the transcription initiation site of RASGRF1, which is highly expressed in neurons and retina and has previously been implicated in retinal function and memory consolidation. Rasgrf1 -/- mice show a heavier average crystalline lens (P = 0.001). The identification of a susceptibility locus for refractive error on 15q25 will be important in characterizing the molecular mechanism responsible for the most common cause of visual impairment. © 2010 Nature America, Inc. All rights reserved.
DescriptionLetters
Persistent Identifierhttp://hdl.handle.net/10722/137509
ISSN
1061-4036
2021 Impact Factor: 41.307
2020 SCImago Journal Rankings: 18.861
ISI Accession Number ID
WOS:000282276600023
Funding AgencyGrant Number
Wellcome Trust
European Union MyEuropia Marie Curie Research Training Network
Guide Dogs for the Blind Association
European CommunityF2- 2008-201865
European Network of Genetic and Genomic Epidemiology (ENGAGE)HEALTH-F4-2007-201413
FP-5 GenomEUtwin ProjectQLG2-CT-2002-01254
US National Institutes of Health (NIH)/National Eye Institute (NEI)1RO1EY018246
National Institute for Health Research (NIHR)
Netherlands Organisation of Scientific Research (NWO)
Erasmus Medical Center
European Commission Directorate-General XII
Municipality of Rotterdam
Netherlands Genomics Initiative (NGI)
Stichting Wetenschappelijk Onderzoek Het Oogziekenhuis (SWOO)
Landelijke Stichting voor Blinden en Slechtzienden (LSBS)
OOG Foundation
Algemene Nederlandse Vereniging ter Voorkoming van Blindheid (ANVVB)
Rotterdam Eye Institute (REI)
Junta de Castilla y Leon (JcyL)SA044A08
GR93
National Health and Medical Research Council (NHMRC)350415
Medical Genomics
Genetic Cluster ComputerNWO 480-05-003
Clifford Craig Medical Research Trust
Ophthalmic Research Institute of Australia (ORIA)
American Health Assistance Foundation (AHAF)
Peggy and Leslie Cranbourne Foundation
Foundation for Children and Jack Brockhoff Foundation
biomedical assessment (Medical Research Council)
Netherlands Organization for the Health Research and Development (ZonMw)
UitZicht
Research Institute for Diseases in the Elderly (RIDE)
Lijf en Leven
MD Fonds
Henkes
Oogfonds
Swart van Essen
Bevordering van Volkskracht
Blindenhulp
Rotterdamse Vereniging voor Blindenbelangen
Lameris Ootech BV
Topcon BV
Heidelberg Engineering
Instituto de Salud Carlos III (ISCIII)FIS PS09/01979
Funding Information:

The King's College London authors acknowledge funding from the Wellcome Trust, the European Union MyEuropia Marie Curie Research Training Network, Guide Dogs for the Blind Association, the European Community's FP7 (HEALTH-F2- 2008-201865-GEFOS), European Network of Genetic and Genomic Epidemiology (ENGAGE) (HEALTH-F4-2007-201413), the FP-5 GenomEUtwin Project (QLG2-CT-2002-01254), US National Institutes of Health (NIH)/National Eye Institute (NEI) grant 1RO1EY018246 and genotyping by the NIH Center for Inherited Disease Research. The study also received support from the National Institute for Health Research (NIHR) comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service Foundation Trust partnering with King's College London. We are grateful to the volunteer twins, C. Smoliner and M. Liew, and to R. Metlapally and Felicia Hawthorne in T.L.Y.'s laboratory for RASGRF1 expression studies.

References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorHysi, PGen_HK
dc.contributor.authorYoung, TLen_HK
dc.contributor.authorMacKey, DAen_HK
dc.contributor.authorAndrew, Ten_HK
dc.contributor.authorFernándezMedarde, Aen_HK
dc.contributor.authorSolouki, AMen_HK
dc.contributor.authorHewitt, AWen_HK
dc.contributor.authorMacGregor, Sen_HK
dc.contributor.authorVingerling, JRen_HK
dc.contributor.authorLi, YJen_HK
dc.contributor.authorIkram, MKen_HK
dc.contributor.authorFai, LYen_HK
dc.contributor.authorSham, PCen_HK
dc.contributor.authorManyes, Len_HK
dc.contributor.authorPorteros, Aen_HK
dc.contributor.authorLopes, MCen_HK
dc.contributor.authorCarbonaro, Fen_HK
dc.contributor.authorFahy, SJen_HK
dc.contributor.authorMartin, NGen_HK
dc.contributor.authorVan Duijn, CMen_HK
dc.contributor.authorSpector, TDen_HK
dc.contributor.authorRahi, JSen_HK
dc.contributor.authorSantos, Een_HK
dc.contributor.authorKlaver, CCWen_HK
dc.contributor.authorHammond, CJen_HK
dc.date.accessioned2011-08-26T14:26:50Z-
dc.date.available2011-08-26T14:26:50Z-
dc.date.issued2010en_HK
dc.identifier.citationNature Genetics, 2010, v. 42 n. 10, p. 902-905en_HK
dc.identifier.issn1061-4036en_HK
dc.identifier.urihttp://hdl.handle.net/10722/137509-
dc.descriptionLetters-
dc.description.abstractMyopia and hyperopia are at opposite ends of the continuum of refraction, the measure of the eyeĝ€2s ability to focus light, which is an important cause of visual impairment (when aberrant) and is a highly heritable trait. We conducted a genome-wide association study for refractive error in 4,270 individuals from the TwinsUK cohort. We identified SNPs on 15q25 associated with refractive error (rs8027411, P = 7.91 × 10 -8). We replicated this association in six adult cohorts of European ancestry with a combined 13,414 individuals (combined P = 2.07 × 10 -9). This locus overlaps the transcription initiation site of RASGRF1, which is highly expressed in neurons and retina and has previously been implicated in retinal function and memory consolidation. Rasgrf1 -/- mice show a heavier average crystalline lens (P = 0.001). The identification of a susceptibility locus for refractive error on 15q25 will be important in characterizing the molecular mechanism responsible for the most common cause of visual impairment. © 2010 Nature America, Inc. All rights reserved.en_HK
dc.languageengen_US
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.comen_HK
dc.relation.ispartofNature Geneticsen_HK
dc.subject.meshChromosomes, Human, Pair 15 - genetics-
dc.subject.meshGenetic Predisposition to Disease-
dc.subject.meshGenome, Human-
dc.subject.meshGenome-Wide Association Study-
dc.subject.meshMyopia - genetics-
dc.titleA genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25en_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1061-4036&volume=42&issue=10&spage=902&epage=905&date=2010&atitle=A+genome-wide+association+study+for+myopia+and+refractive+error+identifies+a+susceptibility+locus+at+15q25-
dc.identifier.emailSham, PC: pcsham@hku.hken_HK
dc.identifier.authoritySham, PC=rp00459en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1038/ng.664en_HK
dc.identifier.pmid20835236-
dc.identifier.scopuseid_2-s2.0-77957557992en_HK
dc.identifier.hkuros189634en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-77957557992&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume42en_HK
dc.identifier.issue10en_HK
dc.identifier.spage902en_HK
dc.identifier.epage905en_HK
dc.identifier.isiWOS:000282276600023-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridHysi, PG=18133899000en_HK
dc.identifier.scopusauthoridYoung, TL=7403038028en_HK
dc.identifier.scopusauthoridMacKey, DA=22958177700en_HK
dc.identifier.scopusauthoridAndrew, T=7005877095en_HK
dc.identifier.scopusauthoridFernándezMedarde, A=6506390195en_HK
dc.identifier.scopusauthoridSolouki, AM=36605292700en_HK
dc.identifier.scopusauthoridHewitt, AW=12142162700en_HK
dc.identifier.scopusauthoridMacGregor, S=35234029100en_HK
dc.identifier.scopusauthoridVingerling, JR=6603813300en_HK
dc.identifier.scopusauthoridLi, YJ=36062719300en_HK
dc.identifier.scopusauthoridIkram, MK=55196332300en_HK
dc.identifier.scopusauthoridFai, LY=36630228700en_HK
dc.identifier.scopusauthoridSham, PC=34573429300en_HK
dc.identifier.scopusauthoridManyes, L=36465287000en_HK
dc.identifier.scopusauthoridPorteros, A=6603805815en_HK
dc.identifier.scopusauthoridLopes, MC=25958754500en_HK
dc.identifier.scopusauthoridCarbonaro, F=23026630500en_HK
dc.identifier.scopusauthoridFahy, SJ=36604282600en_HK
dc.identifier.scopusauthoridMartin, NG=35376988300en_HK
dc.identifier.scopusauthoridVan Duijn, CM=36037246700en_HK
dc.identifier.scopusauthoridSpector, TD=35351391300en_HK
dc.identifier.scopusauthoridRahi, JS=7003837201en_HK
dc.identifier.scopusauthoridSantos, E=7202142651en_HK
dc.identifier.scopusauthoridKlaver, CCW=6701792190en_HK
dc.identifier.scopusauthoridHammond, CJ=7102559046en_HK
dc.identifier.citeulike7927072-
dc.identifier.issnl1061-4036-

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