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Convergence of linkage, gene expression and association data demonstrates the influence of the RAR-related orphan receptor alpha (RORA) gene on neovascular AMD: A systems biology based approach

dc.creatorSilveira, A. C.en
dc.creatorMorrison, M. A.en
dc.creatorJi, F.en
dc.creatorXu, H.en
dc.creatorReinecke, J. B.en
dc.creatorAdams, S. M.en
dc.creatorArneberg, T. M.en
dc.creatorJanssian, M.en
dc.creatorLee, J. E.en
dc.creatorYuan, Y.en
dc.creatorSchaumberg, D. A.en
dc.creatorKotoula, M. G.en
dc.creatorTsironi, E. E.en
dc.creatorTsiloulis, A. N.en
dc.creatorChatzoulis, D. Z.en
dc.creatorMiller, J. W.en
dc.creatorKim, I. K.en
dc.creatorHageman, G. S.en
dc.creatorFarrer, L. A.en
dc.creatorHaider, N. B.en
dc.creatorDeAngelis, M. M.en
dc.date.accessioned2015-11-23T10:47:19Z
dc.date.available2015-11-23T10:47:19Z
dc.date.issued2010
dc.identifier10.1016/j.visres.2009.09.016
dc.identifier.issn426989
dc.identifier.urihttp://hdl.handle.net/11615/33021
dc.description.abstractTo identify novel genes and pathways associated with AMD, we performed microarray gene expression and linkage analysis which implicated the candidate gene, retinoic acid receptor-related orphan receptor alpha (RORA, 15q). Subsequent genotyping of 159 RORA single nucleotide polymorphisms (SNPs) in a family-based cohort, followed by replication in an unrelated case-control cohort, demonstrated that SNPs and haplotypes located in intron 1 were significantly associated with neovascular AMD risk in both cohorts. This is the first report demonstrating a possible role for RORA, a receptor for cholesterol, in the pathophysiology of AMD. Moreover, we found a significant interaction between RORA and the ARMS2/HTRA1 locus suggesting a novel pathway underlying AMD pathophysiology. © 2009 Elsevier Ltd.en
dc.sourceVision Researchen
dc.source.urihttp://www.scopus.com/inward/record.url?eid=2-s2.0-77950542695&partnerID=40&md5=342d6eb542100ac23e3c7eb8b2b0c92e
dc.subjectHaplotypesen
dc.subjectLinkageen
dc.subjectMicroarrayen
dc.subjectNeovascularizationen
dc.subjectRORAen
dc.subjectSingle nucleotide polymorphismsen
dc.subjectage related maculopathy susceptibility 2 proteinen
dc.subjectcell nucleus receptoren
dc.subjectcholesterolen
dc.subjectgene producten
dc.subjecthtra serine peptidase 1en
dc.subjectpeptidaseen
dc.subjectretinoic acid receptor related orphan receptor alphaen
dc.subjectunclassified drugen
dc.subjectadulten
dc.subjectageden
dc.subjectarticleen
dc.subjectcase control studyen
dc.subjectcohort analysisen
dc.subjectcontrolled studyen
dc.subjectdisease courseen
dc.subjectfemaleen
dc.subjectgene expressionen
dc.subjectgene interactionen
dc.subjectgene locusen
dc.subjectgenetic associationen
dc.subjectgenetic linkageen
dc.subjectgenetic risken
dc.subjectgenotypeen
dc.subjecthaplotypeen
dc.subjecthumanen
dc.subjectintronen
dc.subjectmajor clinical studyen
dc.subjectmaleen
dc.subjectpathophysiologyen
dc.subjectpriority journalen
dc.subjectretina macula age related degenerationen
dc.subjectretina neovascularizationen
dc.subjectsingle nucleotide polymorphismen
dc.subjectAged, 80 and overen
dc.subjectCase-Control Studiesen
dc.subjectCohort Studiesen
dc.subjectFamilyen
dc.subjectGene Expression Profilingen
dc.subjectGene Frequencyen
dc.subjectGenetic Predisposition to Diseaseen
dc.subjectHumansen
dc.subjectMacular Degenerationen
dc.subjectMicroarray Analysisen
dc.subjectMiddle Ageden
dc.subjectNuclear Receptor Subfamily 1, Group F, Member 1en
dc.subjectPolymerase Chain Reactionen
dc.subjectPolymorphism, Single Nucleotideen
dc.titleConvergence of linkage, gene expression and association data demonstrates the influence of the RAR-related orphan receptor alpha (RORA) gene on neovascular AMD: A systems biology based approachen
dc.typejournalArticleen


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