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Article: Genome-Wide Association Study of Retinopathy in Individuals without Diabetes

TitleGenome-Wide Association Study of Retinopathy in Individuals without Diabetes
Authors
Issue Date2013
PublisherPublic Library of Science. The Journal's web site is located at http://www.plosone.org/home.action
Citation
PLoS One, 2013, v. 8 n. 2, article no. e54232 How to Cite?
AbstractBackground: Mild retinopathy (microaneurysms or dot-blot hemorrhages) is observed in persons without diabetes or hypertension and may reflect microvascular disease in other organs. We conducted a genome-wide association study (GWAS) of mild retinopathy in persons without diabetes. Methods: A working group agreed on phenotype harmonization, covariate selection and analytic plans for within-cohort GWAS. An inverse-variance weighted fixed effects meta-analysis was performed with GWAS results from six cohorts of 19,411 Caucasians. The primary analysis included individuals without diabetes and secondary analyses were stratified by hypertension status. We also singled out the results from single nucleotide polymorphisms (SNPs) previously shown to be associated with diabetes and hypertension, the two most common causes of retinopathy. Results: No SNPs reached genome-wide significance in the primary analysis or the secondary analysis of participants with hypertension. SNP, rs12155400, in the histone deacetylase 9 gene (HDAC9) on chromosome 7, was associated with retinopathy in analysis of participants without hypertension, -1.3±0.23 (beta ± standard error), p = 6.6×10-9. Evidence suggests this was a false positive finding. The minor allele frequency was low (~2%), the quality of the imputation was moderate (r2 ~0.7), and no other common variants in the HDAC9 gene were associated with the outcome. SNPs found to be associated with diabetes and hypertension in other GWAS were not associated with retinopathy in persons without diabetes or in subgroups with or without hypertension. Conclusions: This GWAS of retinopathy in individuals without diabetes showed little evidence of genetic associations. Further studies are needed to identify genes associated with these signs in order to help unravel novel pathways and determinants of microvascular diseases.
Persistent Identifierhttp://hdl.handle.net/10722/183415
ISSN
2015 Impact Factor: 3.057
2015 SCImago Journal Rankings: 1.395
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorJensen, RAen_US
dc.contributor.authorSim, Xen_US
dc.contributor.authorLi, Xen_US
dc.contributor.authorCotch, MFen_US
dc.contributor.authorIkram, MKen_US
dc.contributor.authorHolliday, EGen_US
dc.contributor.authorEiriksdottir, Gen_US
dc.contributor.authorHarris, TBen_US
dc.contributor.authorJonasson, Fen_US
dc.contributor.authorKlein, BEKen_US
dc.contributor.authorLauner, LJen_US
dc.contributor.authorSmith, AVen_US
dc.contributor.authorBoerwinkle, Een_US
dc.contributor.authorCheung, Nen_US
dc.contributor.authorHewitt, AWen_US
dc.contributor.authorLiew, Gen_US
dc.contributor.authorMitchell, Pen_US
dc.contributor.authorWang, JJen_US
dc.contributor.authorAttia, Jen_US
dc.contributor.authorScott, Ren_US
dc.contributor.authorGlazer, NLen_US
dc.contributor.authorLumley, Ten_US
dc.contributor.authorMcknight, Ben_US
dc.contributor.authorPsaty, BMen_US
dc.contributor.authorTaylor, Ken_US
dc.contributor.authorHofman, Aen_US
dc.contributor.authorDe Jong, PTVMen_US
dc.contributor.authorRivadeneira, Fen_US
dc.contributor.authorUitterlinden, AGen_US
dc.contributor.authorTay, WTen_US
dc.contributor.authorTeo, YYen_US
dc.contributor.authorSeielstad, Men_US
dc.contributor.authorLiu, Jen_US
dc.contributor.authorCheng, CYen_US
dc.contributor.authorSaw, SMen_US
dc.contributor.authorAung, Ten_US
dc.contributor.authorGanesh, SKen_US
dc.contributor.authorO'donnell, CJen_US
dc.contributor.authorNalls, MAen_US
dc.contributor.authorWiggins, KLen_US
dc.contributor.authorKuo, JZen_US
dc.contributor.authorVan Duijn, CMen_US
dc.contributor.authorGudnason, Ven_US
dc.contributor.authorKlein, Ren_US
dc.contributor.authorSiscovick, DSen_US
dc.contributor.authorRotter, JIen_US
dc.contributor.authorTai, ESen_US
dc.contributor.authorVingerling, Jen_US
dc.contributor.authorWong, TYen_US
dc.date.accessioned2013-05-27T07:13:26Z-
dc.date.available2013-05-27T07:13:26Z-
dc.date.issued2013en_US
dc.identifier.citationPLoS One, 2013, v. 8 n. 2, article no. e54232en_US
dc.identifier.issn1932-6203en_US
dc.identifier.urihttp://hdl.handle.net/10722/183415-
dc.description.abstractBackground: Mild retinopathy (microaneurysms or dot-blot hemorrhages) is observed in persons without diabetes or hypertension and may reflect microvascular disease in other organs. We conducted a genome-wide association study (GWAS) of mild retinopathy in persons without diabetes. Methods: A working group agreed on phenotype harmonization, covariate selection and analytic plans for within-cohort GWAS. An inverse-variance weighted fixed effects meta-analysis was performed with GWAS results from six cohorts of 19,411 Caucasians. The primary analysis included individuals without diabetes and secondary analyses were stratified by hypertension status. We also singled out the results from single nucleotide polymorphisms (SNPs) previously shown to be associated with diabetes and hypertension, the two most common causes of retinopathy. Results: No SNPs reached genome-wide significance in the primary analysis or the secondary analysis of participants with hypertension. SNP, rs12155400, in the histone deacetylase 9 gene (HDAC9) on chromosome 7, was associated with retinopathy in analysis of participants without hypertension, -1.3±0.23 (beta ± standard error), p = 6.6×10-9. Evidence suggests this was a false positive finding. The minor allele frequency was low (~2%), the quality of the imputation was moderate (r2 ~0.7), and no other common variants in the HDAC9 gene were associated with the outcome. SNPs found to be associated with diabetes and hypertension in other GWAS were not associated with retinopathy in persons without diabetes or in subgroups with or without hypertension. Conclusions: This GWAS of retinopathy in individuals without diabetes showed little evidence of genetic associations. Further studies are needed to identify genes associated with these signs in order to help unravel novel pathways and determinants of microvascular diseases.en_US
dc.languageengen_US
dc.publisherPublic Library of Science. The Journal's web site is located at http://www.plosone.org/home.actionen_US
dc.relation.ispartofPLoS ONEen_US
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.titleGenome-Wide Association Study of Retinopathy in Individuals without Diabetesen_US
dc.typeArticleen_US
dc.identifier.emailCheung, N: dannycheung@hotmail.comen_US
dc.identifier.emailGanesh, SK: dannycheung@hotmail.comen_US
dc.identifier.authorityCheung, N=rp01752en_US
dc.identifier.authorityGanesh, SK=rp01752en_US
dc.description.naturepublished_or_final_versionen_US
dc.identifier.doi10.1371/journal.pone.0054232en_US
dc.identifier.pmid23393555-
dc.identifier.scopuseid_2-s2.0-84873503356en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-84873503356&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume8en_US
dc.identifier.issue2en_US
dc.identifier.spagearticle no. e54232-
dc.identifier.isiWOS:000314692800009-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridJensen, RA=7403518139en_US
dc.identifier.scopusauthoridSim, X=15069915400en_US
dc.identifier.scopusauthoridLi, X=35210582200en_US
dc.identifier.scopusauthoridCotch, MF=6603036992en_US
dc.identifier.scopusauthoridIkram, MK=55196332300en_US
dc.identifier.scopusauthoridHolliday, EG=8879831700en_US
dc.identifier.scopusauthoridEiriksdottir, G=6602165684en_US
dc.identifier.scopusauthoridHarris, TB=55486499700en_US
dc.identifier.scopusauthoridJonasson, F=7003807327en_US
dc.identifier.scopusauthoridKlein, BEK=35433541400en_US
dc.identifier.scopusauthoridLauner, LJ=7006392362en_US
dc.identifier.scopusauthoridSmith, AV=7406753503en_US
dc.identifier.scopusauthoridBoerwinkle, E=55531657300en_US
dc.identifier.scopusauthoridCheung, N=55443689200en_US
dc.identifier.scopusauthoridHewitt, AW=55156076300en_US
dc.identifier.scopusauthoridLiew, G=55554575900en_US
dc.identifier.scopusauthoridMitchell, P=55628588036en_US
dc.identifier.scopusauthoridWang, JJ=55664024800en_US
dc.identifier.scopusauthoridAttia, J=7003299759en_US
dc.identifier.scopusauthoridScott, R=7404341627en_US
dc.identifier.scopusauthoridGlazer, NL=8509316100en_US
dc.identifier.scopusauthoridLumley, T=6603813300en_US
dc.identifier.scopusauthoridMcKnight, B=35231271400en_US
dc.identifier.scopusauthoridPsaty, BM=7403518139en_US
dc.identifier.scopusauthoridTaylor, K=15069915400en_US
dc.identifier.scopusauthoridHofman, A=35210582200en_US
dc.identifier.scopusauthoridde Jong, PTVM=6603036992en_US
dc.identifier.scopusauthoridRivadeneira, F=55196332300en_US
dc.identifier.scopusauthoridUitterlinden, AG=8879831700en_US
dc.identifier.scopusauthoridTay, WT=6602165684en_US
dc.identifier.scopusauthoridTeo, YY=55486499700en_US
dc.identifier.scopusauthoridSeielstad, M=7003807327en_US
dc.identifier.scopusauthoridLiu, J=35433541400en_US
dc.identifier.scopusauthoridCheng, CY=7006392362en_US
dc.identifier.scopusauthoridSaw, SM=7406753503en_US
dc.identifier.scopusauthoridAung, T=55531657300en_US
dc.identifier.scopusauthoridGanesh, SK=55443689200en_US
dc.identifier.scopusauthoridO'Donnell, CJ=55156076300en_US
dc.identifier.scopusauthoridNalls, MA=55554575900en_US
dc.identifier.scopusauthoridWiggins, KL=55628588036en_US
dc.identifier.scopusauthoridKuo, JZ=55664024800en_US
dc.identifier.scopusauthoridvan Duijn, CM=7003299759en_US
dc.identifier.scopusauthoridGudnason, V=7404341627en_US
dc.identifier.scopusauthoridKlein, R=8509316100en_US
dc.identifier.scopusauthoridSiscovick, DS=7003921176en_US
dc.identifier.scopusauthoridRotter, JI=7006533169en_US
dc.identifier.scopusauthoridTai, ES=35374213400en_US
dc.identifier.scopusauthoridVingerling, J=55540988200en_US
dc.identifier.scopusauthoridWong, TY=36041248200en_US

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