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
Author
Silveira, A. C.; Morrison, M. A.; Ji, F.; Xu, H.; Reinecke, J. B.; Adams, S. M.; Arneberg, T. M.; Janssian, M.; Lee, J. E.; Yuan, Y.; Schaumberg, D. A.; Kotoula, M. G.; Tsironi, E. E.; Tsiloulis, A. N.; Chatzoulis, D. Z.; Miller, J. W.; Kim, I. K.; Hageman, G. S.; Farrer, L. A.; Haider, N. B.; DeAngelis, M. M.Date
2010Keyword
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.
Collections
Related items
Showing items related by title, author, creator and subject.
-
Toll-like receptor 2, 4 and 9 polymorphisms and their association with ICU-acquired infections in Central Greece
Chatzi M., Papanikolaou J., Makris D., Papathanasiou I., Tsezou A., Karvouniaris M., Zakynthinos E. (2018)Purpose: To test the potential of four common Toll-like receptor (TLR) polymorphisms to predispose to specific intensive care unit (ICU)-acquired infections and affect outcomes in a Greek ICU. Materials and methods: The ... -
Investigation of somatostatin receptor profile of neuroendocrine carcinomas of the breast
Kontogeorgos G., Thodou E., Choreftaki T. (2020)Carcinomas of the breast with neuroendocrine features are rare primary neoplasms positive for neuroendocrine markers. According to the WHO classification of tumours of the breast they are divided into three morphologically ... -
Blocking of interleukin-10 receptor - A novel approach to stimulate T-helper cell type 1 responses to hepatitis C virus
Rigopoulou, E. I.; Abbott, W. G. H.; Haigh, P.; Naoumov, N. V. (2005)Chronic hepatitis C virus (HCV) infection is associated with weak CD4+ T-helper type 1 reactivity and enhanced interleukin-10 production to HCV antigens. Here we demonstrate in vitro that monoclonal antibody-induced blockade ...