期刊
VISION RESEARCH
卷 50, 期 7, 页码 698-715出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.visres.2009.09.016
关键词
Neovascularization; RORA; Single nucleotide polymorphisms; Haplotypes; Linkage; Microarray
资金
- NEI NIH HHS [EY14104, EY017362, R01 EY014458-06A1, R01 EY014458, P30 EY014104, R01 EY017362, EY014458, P30 EY014104-05S2, R01 EY017362-03] Funding Source: Medline
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. (C) 2009 Elsevier Ltd. All rights reserved.
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