April 2010
Volume 51, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2010
Association of Copy Number Variations With Age-Related Macular Degeneration
Author Affiliations & Notes
  • S. Theru Arumugam
    Epidemiology and Biostatistics,
    Case Western Reserve University, Cleveland, Ohio
  • R. P. Igo, Jr.
    Epidemiology and Biostatistics,
    Case Western Reserve University, Cleveland, Ohio
  • L. J. Kopplin
    Genetics,
    Case Western Reserve University, Cleveland, Ohio
  • K. E. Lee
    Ophthalmology & Vis Sci, Univ of Wisconsin-Madison, Madison, Wisconsin
  • R. Klein
    Ophthalmology & Vis Sci, Univ of Wisconsin-Madison, Madison, Wisconsin
  • B. E. K. Klein
    Ophthalmology & Vis Sci, Univ of Wisconsin-Madison, Madison, Wisconsin
  • S. K. Iyengar
    Epidemiology and Biostatistics,
    Case Western Reserve University, Cleveland, Ohio
  • Footnotes
    Commercial Relationships  S. Theru Arumugam, None; R.P. Igo, Jr., None; L.J. Kopplin, None; K.E. Lee, None; R. Klein, None; B.E.K. Klein, None; S.K. Iyengar, None.
  • Footnotes
    Support  National Eye Institute, The Retina Research Foundation
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 2476. doi:
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    • Get Citation

      S. Theru Arumugam, R. P. Igo, Jr., L. J. Kopplin, K. E. Lee, R. Klein, B. E. K. Klein, S. K. Iyengar; Association of Copy Number Variations With Age-Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2010;51(13):2476.

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

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Abstract

Purpose: : Age-related macular degeneration (AMD) is the leading cause of blindness in people over 65 yr. of age. The aim of this study is to evaluate the contribution of copy number variations to AMD susceptibility.

Methods: : We genotyped 293 samples participating in a familial AMD study using Affymetrix Genome-wide Human SNP Array 5.0. The genotypes of 1047 copy number polymorphic regions were called from the probe intensity data using Birdsuite program version 1.5. After stringent quality criteria, a total of 307 copy number polymorphisms (CNPs) were tested for association with AMD using a linear mixed model controlling for family relationships. AMD severity was determined by grading stereoscopic color fundus photography using the Wisconsin Age-Related Maculopathy grading scheme and the modified Wisconsin AMD severity scale

Results: : We observed ten different CNPs associated with AMD. Increase in number of deleted copies at five of these CNP regions found to confer protection against AMD (p < 0.05), including CNP147, which involves deletion of CFHR3 and CFHR1, whereas the increase in deleted copies at remaining CNP regions conferred risk for AMD (p < 0.05). These results are being replicated in independent case-control as well as family cohorts.

Conclusions: : We describe the association of AMD with CNPs across the human genome. In addition to confirming the protective effect of deletion at CNP147, we found several novel CNPs associated with AMD.

Keywords: age-related macular degeneration • genetics 
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