Influence of ROBO1 and RORA on risk of age-related macular degeneration reveals genetically distinct phenotypes in disease pathophysiology.

doi:10.1371/journal.pone.0025775

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Article

Influence of ROBO1 and RORA on risk of age-related macular degeneration reveals genetically distinct phenotypes in disease pathophysiology.

PloS one - 1 Jan 2011

Jun Gyungah, Nicolaou Michael, Morrison Margaux A, Buros Jacqueline, Morgan Denise J, Radeke Monte J, Yonekawa Yoshihiro, Tsironi Evangelia E, Kotoula Maria G, Zacharaki Fani, Mollema Nissa, Yuan Yang, Miller Joan W, Haider Neena B, Hageman Gregory S, Kim Ivana K, Schaumberg Debra A, Farrer Lindsay A, DeAngelis Margaret M

Abstract excerpt

ROBO1 is a strong candidate gene for age-related macular degeneration (AMD) based upon its location under a linkage peak on chromosome 3p12, its expression pattern, and its purported function in a pathway that includes RORA, a gene previously associated with risk for neovascular AMD. Previously, we observed that expression of ROBO1 and RORA is down-regulated among wet AMD cases, as compared to their unaffected...

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Identifiers

PMID: 21998696
DOI: 10.1371/journal.pone.0025775
PMCID: PMC3188561

Genes

ROBO1
RORA

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