April 2010
Volume 51, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2010
The ARMS2 69S Allele Associates With Bilateral Advanced Age-Related Macular Degeneration
Author Affiliations & Notes
  • S. G. Schwartz
    Bascom Palmer Eye Institute, Ophthalmology,
    University of Miami Miller School of Medicine, Miami, Florida
  • W. K. Scott
    Hussman Institute for Human Genomics, Ctr Human Genetics Res-Med Ctr,
    University of Miami Miller School of Medicine, Miami, Florida
  • P. Gallins
    Hussman Institute for Human Genomics, Ctr Human Genetics Res-Med Ctr,
    University of Miami Miller School of Medicine, Miami, Florida
  • J. L. Kovach
    Bascom Palmer Eye Institute, Ophthalmology,
    University of Miami Miller School of Medicine, Miami, Florida
  • A. Agarwal
    Bascom Palmer Eye Institute, Ophthalmology,
    Vanderbilt University, Nashville, Tennessee
  • E. A. Postel
    Ophthalmology, Duke University Eye Center, Durham, North Carolina
  • G. Wang
    Hussman Institute for Human Genomics, Ctr Human Genetics Res-Med Ctr,
    University of Miami Miller School of Medicine, Miami, Florida
  • K. M. Spencer
    Hussman Institute for Human Genomics, Ctr Human Genetics Res-Med Ctr,
    Vanderbilt University, Nashville, Tennessee
  • J. L. Haines
    Hussman Institute for Human Genomics, Ctr Human Genetics Res-Med Ctr,
    Vanderbilt University, Nashville, Tennessee
  • M. A. Pericak-Vance
    Hussman Institute for Human Genomics, Ctr Human Genetics Res-Med Ctr,
    University of Miami Miller School of Medicine, Miami, Florida
  • Footnotes
    Commercial Relationships  S.G. Schwartz, University of Miami, P; Pfizer, I; W.K. Scott, ArcticDx, P; P. Gallins, None; J.L. Kovach, None; A. Agarwal, ArcticDx, P; E.A. Postel, ArcticDx, P; G. Wang, None; K.M. Spencer, ArcticDx, P; J.L. Haines, ArcticDx, P; M.A. Pericak-Vance, ArcticDx, P.
  • Footnotes
    Support  NIH Grant 7R01EY012118, NIH Center Grant P30-EY014801, and an unrestricted grant to the University of Miami from Research to Prevent Blindness
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 1257. doi:https://doi.org/
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      S. G. Schwartz, W. K. Scott, P. Gallins, J. L. Kovach, A. Agarwal, E. A. Postel, G. Wang, K. M. Spencer, J. L. Haines, M. A. Pericak-Vance; The ARMS2 69S Allele Associates With Bilateral Advanced Age-Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2010;51(13):1257. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : To investigate genotype-phenotype correlations in patients with advanced age-related macular degeneration (AMD), including geographic atrophy or choroidal neovascularization, in at least one eye.

Methods: : Retrospective, observational case series. This clinic-based case series data set contained 669 patients with advanced AMD in at least one eye: 116 patients had geographic atrophy in at least one eye and 553 patients had choroidal neovascularization in at least one eye. Genetic analysis was performed to identify genotypes at four AMD-associated variants (ARMS2 A69S, CFH Y402H, C3 R102G, and CFB R32Q) in these patients.

Results: : In patients with geographic atrophy in at least one eye, the ARMS2 69S allele associated with geographic atrophy in the fellow eye (Fisher's exact test p=0.04). In patients with choroidal neovascularization in at least one eye, the ARMS2 69S allele associated with geographic atrophy or choroidal neovascularization in the fellow eye (Fisher's exact test p=0.02). In similar analyses with the variants in CFH, C3, and CFB, no statistically significant associations were found.

Conclusions: : In this series, in patients with geographic atrophy or choroidal neovascularization in at least one eye, the ARMS2 69S allele associated with advanced disease (geographic atrophy or choroidal neovascularization) in the fellow eye. The ARMS2 69S allele may predict advanced AMD in the fellow eye of patients with unilateral advanced AMD.

Keywords: age-related macular degeneration • genetics • clinical (human) or epidemiologic studies: biostatistics/epidemiology methodology 
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