dc.creator | Silveira, A. C. | en |
dc.creator | Morrison, M. A. | en |
dc.creator | Ji, F. | en |
dc.creator | Xu, H. | en |
dc.creator | Reinecke, J. B. | en |
dc.creator | Adams, S. M. | en |
dc.creator | Arneberg, T. M. | en |
dc.creator | Janssian, M. | en |
dc.creator | Lee, J. E. | en |
dc.creator | Yuan, Y. | en |
dc.creator | Schaumberg, D. A. | en |
dc.creator | Kotoula, M. G. | en |
dc.creator | Tsironi, E. E. | en |
dc.creator | Tsiloulis, A. N. | en |
dc.creator | Chatzoulis, D. Z. | en |
dc.creator | Miller, J. W. | en |
dc.creator | Kim, I. K. | en |
dc.creator | Hageman, G. S. | en |
dc.creator | Farrer, L. A. | en |
dc.creator | Haider, N. B. | en |
dc.creator | DeAngelis, M. M. | en |
dc.date.accessioned | 2015-11-23T10:47:19Z | |
dc.date.available | 2015-11-23T10:47:19Z | |
dc.date.issued | 2010 | |
dc.identifier | 10.1016/j.visres.2009.09.016 | |
dc.identifier.issn | 426989 | |
dc.identifier.uri | http://hdl.handle.net/11615/33021 | |
dc.description.abstract | To 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.source | Vision Research | en |
dc.source.uri | http://www.scopus.com/inward/record.url?eid=2-s2.0-77950542695&partnerID=40&md5=342d6eb542100ac23e3c7eb8b2b0c92e | |
dc.subject | Haplotypes | en |
dc.subject | Linkage | en |
dc.subject | Microarray | en |
dc.subject | Neovascularization | en |
dc.subject | RORA | en |
dc.subject | Single nucleotide polymorphisms | en |
dc.subject | age related maculopathy susceptibility 2 protein | en |
dc.subject | cell nucleus receptor | en |
dc.subject | cholesterol | en |
dc.subject | gene product | en |
dc.subject | htra serine peptidase 1 | en |
dc.subject | peptidase | en |
dc.subject | retinoic acid receptor related orphan receptor alpha | en |
dc.subject | unclassified drug | en |
dc.subject | adult | en |
dc.subject | aged | en |
dc.subject | article | en |
dc.subject | case control study | en |
dc.subject | cohort analysis | en |
dc.subject | controlled study | en |
dc.subject | disease course | en |
dc.subject | female | en |
dc.subject | gene expression | en |
dc.subject | gene interaction | en |
dc.subject | gene locus | en |
dc.subject | genetic association | en |
dc.subject | genetic linkage | en |
dc.subject | genetic risk | en |
dc.subject | genotype | en |
dc.subject | haplotype | en |
dc.subject | human | en |
dc.subject | intron | en |
dc.subject | major clinical study | en |
dc.subject | male | en |
dc.subject | pathophysiology | en |
dc.subject | priority journal | en |
dc.subject | retina macula age related degeneration | en |
dc.subject | retina neovascularization | en |
dc.subject | single nucleotide polymorphism | en |
dc.subject | Aged, 80 and over | en |
dc.subject | Case-Control Studies | en |
dc.subject | Cohort Studies | en |
dc.subject | Family | en |
dc.subject | Gene Expression Profiling | en |
dc.subject | Gene Frequency | en |
dc.subject | Genetic Predisposition to Disease | en |
dc.subject | Humans | en |
dc.subject | Macular Degeneration | en |
dc.subject | Microarray Analysis | en |
dc.subject | Middle Aged | en |
dc.subject | Nuclear Receptor Subfamily 1, Group F, Member 1 | en |
dc.subject | Polymerase Chain Reaction | en |
dc.subject | Polymorphism, Single Nucleotide | en |
dc.title | 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 | en |
dc.type | journalArticle | en |